A comprehensive library of familial human amyotrophic lateral sclerosis induced pluripotent stem cells
Amyotrophic lateral sclerosis is a progressive disease characterized by the loss of upper and lower motor neurons, leading to paralysis of voluntary muscles. About 10% of all ALS cases are familial (fALS), among which 15-20% are linked to Cu/Zn superoxide dismutase (SOD1) mutations, usually inherite...
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| creator | Li, Ying Balasubramanian, Umamahesw Cohen, Devon Zhang, Ping-Wu Mosmiller, Elizabeth Sattler, Rita Maragakis, Nicholas J Rothstein, Jeffrey D |
| description | Amyotrophic lateral sclerosis is a progressive disease characterized by the loss of upper and lower motor neurons, leading to paralysis of voluntary muscles. About 10% of all ALS cases are familial (fALS), among which 15-20% are linked to Cu/Zn superoxide dismutase (SOD1) mutations, usually inherited in an autosomal dominant manner. To date only one FDA approved drug is available which increases survival moderately. Our understanding of ALS disease mechanisms is largely derived from rodent model studies, however due to the differences between rodents and humans, it is necessary to have humanized models for studies of disease pathogenesis as well as drug development. Therefore, we generated a comprehensive library of a total 22 of fALS patient-specific induced pluripotent stem cell (iPSC) lines. These cells were thoroughly characterized before being deposited into the library. The library of cells includes a variety of C9orf72 mutations, sod1 mutations, FUS, ANG and FIG4 mutations. Certain mutations are represented with more than one line, which allows for studies of variable genetic backgrounds. In addition, these iPSCs can be successfully differentiated to astroglia, a cell type known to play a critical role in ALS disease progression. This library represents a comprehensive resource that can be used for ALS disease modeling and the development of novel therapeutics. |
| doi_str_mv | 10.1371/journal.pone.0118266 |
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About 10% of all ALS cases are familial (fALS), among which 15-20% are linked to Cu/Zn superoxide dismutase (SOD1) mutations, usually inherited in an autosomal dominant manner. To date only one FDA approved drug is available which increases survival moderately. Our understanding of ALS disease mechanisms is largely derived from rodent model studies, however due to the differences between rodents and humans, it is necessary to have humanized models for studies of disease pathogenesis as well as drug development. Therefore, we generated a comprehensive library of a total 22 of fALS patient-specific induced pluripotent stem cell (iPSC) lines. These cells were thoroughly characterized before being deposited into the library. The library of cells includes a variety of C9orf72 mutations, sod1 mutations, FUS, ANG and FIG4 mutations. Certain mutations are represented with more than one line, which allows for studies of variable genetic backgrounds. In addition, these iPSCs can be successfully differentiated to astroglia, a cell type known to play a critical role in ALS disease progression. This library represents a comprehensive resource that can be used for ALS disease modeling and the development of novel therapeutics.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0118266</identifier><identifier>PMID: 25760436</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adult ; Aged ; Amyotrophic lateral sclerosis ; Amyotrophic Lateral Sclerosis - genetics ; Amyotrophic Lateral Sclerosis - pathology ; Analysis ; Animal models ; Astrocytes ; Astrocytes - metabolism ; Brain research ; C9orf72 Protein ; Care and treatment ; Cell Differentiation ; Cells, Cultured ; Development and progression ; Disease ; Drug development ; Female ; Fibroblasts ; Gene expression ; Genetic aspects ; Humans ; Induced Pluripotent Stem Cells - physiology ; Inhibitory postsynaptic potentials ; Kinases ; Libraries ; Male ; Medical screening ; Medicine ; Middle Aged ; Motor neurons ; Muscles ; Mutation ; Neurology ; Neurons ; Paralysis ; Pathogenesis ; Patients ; Physiological aspects ; Pluripotency ; Proteins - genetics ; Rodents ; Science ; Stem cell transplantation ; Stem cells ; Studies ; Superoxide dismutase ; Superoxide Dismutase - genetics ; Superoxide Dismutase-1 ; Tissue Banks ; Zinc</subject><ispartof>PloS one, 2015-03, Vol.10 (3), p.e0118266</ispartof><rights>COPYRIGHT 2015 Public Library of Science</rights><rights>2015 Li et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2015 Li et al 2015 Li et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-f6c90c2b57d20a80df44ec0fb2cbc62f489d6ce25dc3041c48ebb375068756283</citedby><cites>FETCH-LOGICAL-c692t-f6c90c2b57d20a80df44ec0fb2cbc62f489d6ce25dc3041c48ebb375068756283</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356618/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356618/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79342,79343</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25760436$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Li, Ying</creatorcontrib><creatorcontrib>Balasubramanian, Umamahesw</creatorcontrib><creatorcontrib>Cohen, Devon</creatorcontrib><creatorcontrib>Zhang, Ping-Wu</creatorcontrib><creatorcontrib>Mosmiller, Elizabeth</creatorcontrib><creatorcontrib>Sattler, Rita</creatorcontrib><creatorcontrib>Maragakis, Nicholas J</creatorcontrib><creatorcontrib>Rothstein, Jeffrey D</creatorcontrib><title>A comprehensive library of familial human amyotrophic lateral sclerosis induced pluripotent stem cells</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Amyotrophic lateral sclerosis is a progressive disease characterized by the loss of upper and lower motor neurons, leading to paralysis of voluntary muscles. About 10% of all ALS cases are familial (fALS), among which 15-20% are linked to Cu/Zn superoxide dismutase (SOD1) mutations, usually inherited in an autosomal dominant manner. To date only one FDA approved drug is available which increases survival moderately. Our understanding of ALS disease mechanisms is largely derived from rodent model studies, however due to the differences between rodents and humans, it is necessary to have humanized models for studies of disease pathogenesis as well as drug development. Therefore, we generated a comprehensive library of a total 22 of fALS patient-specific induced pluripotent stem cell (iPSC) lines. These cells were thoroughly characterized before being deposited into the library. The library of cells includes a variety of C9orf72 mutations, sod1 mutations, FUS, ANG and FIG4 mutations. Certain mutations are represented with more than one line, which allows for studies of variable genetic backgrounds. In addition, these iPSCs can be successfully differentiated to astroglia, a cell type known to play a critical role in ALS disease progression. This library represents a comprehensive resource that can be used for ALS disease modeling and the development of novel therapeutics.</description><subject>Adult</subject><subject>Aged</subject><subject>Amyotrophic lateral sclerosis</subject><subject>Amyotrophic Lateral Sclerosis - genetics</subject><subject>Amyotrophic Lateral Sclerosis - pathology</subject><subject>Analysis</subject><subject>Animal models</subject><subject>Astrocytes</subject><subject>Astrocytes - metabolism</subject><subject>Brain research</subject><subject>C9orf72 Protein</subject><subject>Care and treatment</subject><subject>Cell Differentiation</subject><subject>Cells, Cultured</subject><subject>Development and progression</subject><subject>Disease</subject><subject>Drug development</subject><subject>Female</subject><subject>Fibroblasts</subject><subject>Gene expression</subject><subject>Genetic aspects</subject><subject>Humans</subject><subject>Induced Pluripotent Stem Cells - physiology</subject><subject>Inhibitory postsynaptic potentials</subject><subject>Kinases</subject><subject>Libraries</subject><subject>Male</subject><subject>Medical screening</subject><subject>Medicine</subject><subject>Middle Aged</subject><subject>Motor neurons</subject><subject>Muscles</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Neurons</subject><subject>Paralysis</subject><subject>Pathogenesis</subject><subject>Patients</subject><subject>Physiological aspects</subject><subject>Pluripotency</subject><subject>Proteins - genetics</subject><subject>Rodents</subject><subject>Science</subject><subject>Stem cell transplantation</subject><subject>Stem cells</subject><subject>Studies</subject><subject>Superoxide dismutase</subject><subject>Superoxide Dismutase - genetics</subject><subject>Superoxide Dismutase-1</subject><subject>Tissue Banks</subject><subject>Zinc</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><sourceid>DOA</sourceid><recordid>eNqNk9tq3DAQhk1padK0b1BaQ6G0F7vV2fJNYQk9LAQCPd0KWZbWCrLlSnJo3r7arBPWJRdFFxbSN7_nH80UxUsI1hBX8MOVn8Ig3Xr0g14DCDli7FFxCmuMVgwB_Phof1I8i_EKAIo5Y0-LE0QrBghmp4XZlMr3Y9CdHqK91qWzTZDhpvSmNLK3zkpXdlMvh1L2Nz4FP3ZWlU4mHfJNVE4HH20s7dBOSrfl6KZgR5_0kMqYdF8q7Vx8Xjwx0kX9Yv6eFT8_f_px_nV1cflle765WClWo7QyTNVAoYZWLQKSg9YQohUwDVKNYsgQXrdMaURbhQGBinDdNLiigPGKMsTxWfH6oDs6H8VcoiggY4ggRmuWie2BaL28EmOwfXYrvLTi9sCHnZAh2exLNLhVvIKa4iqnwankNTNUssZoQ1itstbH-W9T0-tWZc-5KAvR5c1gO7Hz14Jgyhjcp_tuFgj-96RjEr2N-4LJQfvpNm_MaEUpyuibf9CH3c3UTmYDdjD5xaTai4oNQTz3Q81hptYPUHm1urcq95Ox-XwR8H4RkJmk_6SdnGIU2-_f_p-9_LVk3x6xnZYuddG7KVk_xCVIDqDK3RaDNvdFhkDsx-GuGmI_DmIehxz26viB7oPu-h__BT4nBvE</recordid><startdate>20150311</startdate><enddate>20150311</enddate><creator>Li, Ying</creator><creator>Balasubramanian, Umamahesw</creator><creator>Cohen, Devon</creator><creator>Zhang, Ping-Wu</creator><creator>Mosmiller, Elizabeth</creator><creator>Sattler, Rita</creator><creator>Maragakis, Nicholas J</creator><creator>Rothstein, Jeffrey D</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20150311</creationdate><title>A comprehensive library of familial human amyotrophic lateral sclerosis induced pluripotent stem cells</title><author>Li, Ying ; Balasubramanian, Umamahesw ; Cohen, Devon ; Zhang, Ping-Wu ; Mosmiller, Elizabeth ; Sattler, Rita ; Maragakis, Nicholas J ; Rothstein, Jeffrey D</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-f6c90c2b57d20a80df44ec0fb2cbc62f489d6ce25dc3041c48ebb375068756283</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Amyotrophic lateral sclerosis</topic><topic>Amyotrophic Lateral Sclerosis - genetics</topic><topic>Amyotrophic Lateral Sclerosis - pathology</topic><topic>Analysis</topic><topic>Animal models</topic><topic>Astrocytes</topic><topic>Astrocytes - metabolism</topic><topic>Brain research</topic><topic>C9orf72 Protein</topic><topic>Care and treatment</topic><topic>Cell Differentiation</topic><topic>Cells, Cultured</topic><topic>Development and progression</topic><topic>Disease</topic><topic>Drug development</topic><topic>Female</topic><topic>Fibroblasts</topic><topic>Gene expression</topic><topic>Genetic aspects</topic><topic>Humans</topic><topic>Induced Pluripotent Stem Cells - physiology</topic><topic>Inhibitory postsynaptic potentials</topic><topic>Kinases</topic><topic>Libraries</topic><topic>Male</topic><topic>Medical screening</topic><topic>Medicine</topic><topic>Middle Aged</topic><topic>Motor neurons</topic><topic>Muscles</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Neurons</topic><topic>Paralysis</topic><topic>Pathogenesis</topic><topic>Patients</topic><topic>Physiological aspects</topic><topic>Pluripotency</topic><topic>Proteins - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Li, Ying</au><au>Balasubramanian, Umamahesw</au><au>Cohen, Devon</au><au>Zhang, Ping-Wu</au><au>Mosmiller, Elizabeth</au><au>Sattler, Rita</au><au>Maragakis, Nicholas J</au><au>Rothstein, Jeffrey D</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A comprehensive library of familial human amyotrophic lateral sclerosis induced pluripotent stem cells</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2015-03-11</date><risdate>2015</risdate><volume>10</volume><issue>3</issue><spage>e0118266</spage><pages>e0118266-</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Amyotrophic lateral sclerosis is a progressive disease characterized by the loss of upper and lower motor neurons, leading to paralysis of voluntary muscles. About 10% of all ALS cases are familial (fALS), among which 15-20% are linked to Cu/Zn superoxide dismutase (SOD1) mutations, usually inherited in an autosomal dominant manner. To date only one FDA approved drug is available which increases survival moderately. Our understanding of ALS disease mechanisms is largely derived from rodent model studies, however due to the differences between rodents and humans, it is necessary to have humanized models for studies of disease pathogenesis as well as drug development. Therefore, we generated a comprehensive library of a total 22 of fALS patient-specific induced pluripotent stem cell (iPSC) lines. These cells were thoroughly characterized before being deposited into the library. The library of cells includes a variety of C9orf72 mutations, sod1 mutations, FUS, ANG and FIG4 mutations. Certain mutations are represented with more than one line, which allows for studies of variable genetic backgrounds. In addition, these iPSCs can be successfully differentiated to astroglia, a cell type known to play a critical role in ALS disease progression. This library represents a comprehensive resource that can be used for ALS disease modeling and the development of novel therapeutics.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>25760436</pmid><doi>10.1371/journal.pone.0118266</doi><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Aged Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - pathology Analysis Animal models Astrocytes Astrocytes - metabolism Brain research C9orf72 Protein Care and treatment Cell Differentiation Cells, Cultured Development and progression Disease Drug development Female Fibroblasts Gene expression Genetic aspects Humans Induced Pluripotent Stem Cells - physiology Inhibitory postsynaptic potentials Kinases Libraries Male Medical screening Medicine Middle Aged Motor neurons Muscles Mutation Neurology Neurons Paralysis Pathogenesis Patients Physiological aspects Pluripotency Proteins - genetics Rodents Science Stem cell transplantation Stem cells Studies Superoxide dismutase Superoxide Dismutase - genetics Superoxide Dismutase-1 Tissue Banks Zinc |
| title | A comprehensive library of familial human amyotrophic lateral sclerosis induced pluripotent stem cells |
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