Generation of human induced pluripotent stem cells from a Bombay individual: Moving towards “universal-donor” red blood cells
Bombay phenotype is one of the rare phenotypes in the ABO blood group system that fails to express ABH antigens on red blood cells. Nonsense or missense mutations in fucosyltransfrase1 (FUT1) and fucosyltransfrase2 (FUT2) genes are known to create this phenotype. This blood group is compatible with...
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creator | Seifinejad, Ali Taei, Adeleh Totonchi, Mehdi Vazirinasab, Hamed Hassani, Seideh Nafiseh Aghdami, Nasser Shahbazi, Ebrahim Yazdi, Reza Salman Salekdeh, Ghasem Hosseini Baharvand, Hossein |
description | Bombay phenotype is one of the rare phenotypes in the ABO blood group system that fails to express ABH antigens on red blood cells. Nonsense or missense mutations in fucosyltransfrase1 (FUT1) and fucosyltransfrase2 (FUT2) genes are known to create this phenotype. This blood group is compatible with all other blood groups as a donor, as it does not express the H antigen on the red blood cells. In this study, we describe the establishment of human induced pluripotent stem cells (iPSCs) from the dermal fibroblasts of a Bombay blood-type individual by the ectopic expression of established transcription factors Klf4, Oct4, Sox2, and c-Myc. Sequence analyses of fibroblasts and iPSCs revealed a nonsense mutation 826C to T (276 Gln to Ter) in the FUT1 gene and a missense mutation 739G to A (247 Gly to Ser) in the FUT2 gene in the Bombay phenotype under study. The established iPSCs resemble human embryonic stem cells in morphology, passaging, surface and pluripotency markers, normal karyotype, gene expression, DNA methylation of critical pluripotency genes, and in-vitro differentiation. The directed differentiation of the iPSCs into hematopoietic lineage cells displayed increased expression of the hematopoietic lineage markers such as CD34, CD133, RUNX1, KDR, α-globulin, and γ-globulin. Such specific stem cells provide an unprecedented opportunity to produce a universal blood group donor, in-vitro, thus enabling cellular replacement therapies, once the safety issue is resolved. |
doi_str_mv | 10.1016/j.bbrc.2009.11.058 |
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Nonsense or missense mutations in fucosyltransfrase1 (FUT1) and fucosyltransfrase2 (FUT2) genes are known to create this phenotype. This blood group is compatible with all other blood groups as a donor, as it does not express the H antigen on the red blood cells. In this study, we describe the establishment of human induced pluripotent stem cells (iPSCs) from the dermal fibroblasts of a Bombay blood-type individual by the ectopic expression of established transcription factors Klf4, Oct4, Sox2, and c-Myc. Sequence analyses of fibroblasts and iPSCs revealed a nonsense mutation 826C to T (276 Gln to Ter) in the FUT1 gene and a missense mutation 739G to A (247 Gly to Ser) in the FUT2 gene in the Bombay phenotype under study. The established iPSCs resemble human embryonic stem cells in morphology, passaging, surface and pluripotency markers, normal karyotype, gene expression, DNA methylation of critical pluripotency genes, and in-vitro differentiation. The directed differentiation of the iPSCs into hematopoietic lineage cells displayed increased expression of the hematopoietic lineage markers such as CD34, CD133, RUNX1, KDR, α-globulin, and γ-globulin. Such specific stem cells provide an unprecedented opportunity to produce a universal blood group donor, in-vitro, thus enabling cellular replacement therapies, once the safety issue is resolved.</description><identifier>ISSN: 0006-291X</identifier><identifier>EISSN: 1090-2104</identifier><identifier>DOI: 10.1016/j.bbrc.2009.11.058</identifier><identifier>PMID: 19912985</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>60 APPLIED LIFE SCIENCES ; ABO Blood-Group System ; Amino Acid Sequence ; ANTIGENS ; Base Sequence ; BLOOD CELLS ; Blood Donors ; Blood group systems ; BLOOD GROUPS ; Bombay phenotype ; Cell Line ; DNA ; Erythrocytes - cytology ; FIBROBLASTS ; Fibroblasts - cytology ; Fibroblasts - metabolism ; Fucosyltransferases - genetics ; FUT1 and FUT2 genes ; Galactoside 2-alpha-L-fucosyltransferase ; Gene Expression ; GENES ; GLOBULINS ; Hematopoiesis ; Humans ; IN VITRO ; Induced pluripotent stem cells ; KARYOTYPE ; Kruppel-Like Factor 4 ; METHYLATION ; Mutation, Missense ; MUTATIONS ; PHENOTYPE ; Pluripotent Stem Cells - cytology ; Pluripotent Stem Cells - metabolism ; STEM CELLS ; THERAPY ; TRANSCRIPTION FACTORS ; Transcription Factors - genetics</subject><ispartof>Biochemical and biophysical research communications, 2010-01, Vol.391 (1), p.329-334</ispartof><rights>2009 Elsevier Inc.</rights><rights>Copyright 2009 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c479t-f48598f2a7483d2de959215bef82eb513dff0c16a9aa4f46ca004090a65a10643</citedby><cites>FETCH-LOGICAL-c479t-f48598f2a7483d2de959215bef82eb513dff0c16a9aa4f46ca004090a65a10643</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.bbrc.2009.11.058$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,780,784,885,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19912985$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/22199970$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Seifinejad, Ali</creatorcontrib><creatorcontrib>Taei, Adeleh</creatorcontrib><creatorcontrib>Totonchi, Mehdi</creatorcontrib><creatorcontrib>Vazirinasab, Hamed</creatorcontrib><creatorcontrib>Hassani, Seideh Nafiseh</creatorcontrib><creatorcontrib>Aghdami, Nasser</creatorcontrib><creatorcontrib>Shahbazi, Ebrahim</creatorcontrib><creatorcontrib>Yazdi, Reza Salman</creatorcontrib><creatorcontrib>Salekdeh, Ghasem Hosseini</creatorcontrib><creatorcontrib>Baharvand, Hossein</creatorcontrib><title>Generation of human induced pluripotent stem cells from a Bombay individual: Moving towards “universal-donor” red blood cells</title><title>Biochemical and biophysical research communications</title><addtitle>Biochem Biophys Res Commun</addtitle><description>Bombay phenotype is one of the rare phenotypes in the ABO blood group system that fails to express ABH antigens on red blood cells. Nonsense or missense mutations in fucosyltransfrase1 (FUT1) and fucosyltransfrase2 (FUT2) genes are known to create this phenotype. This blood group is compatible with all other blood groups as a donor, as it does not express the H antigen on the red blood cells. In this study, we describe the establishment of human induced pluripotent stem cells (iPSCs) from the dermal fibroblasts of a Bombay blood-type individual by the ectopic expression of established transcription factors Klf4, Oct4, Sox2, and c-Myc. Sequence analyses of fibroblasts and iPSCs revealed a nonsense mutation 826C to T (276 Gln to Ter) in the FUT1 gene and a missense mutation 739G to A (247 Gly to Ser) in the FUT2 gene in the Bombay phenotype under study. The established iPSCs resemble human embryonic stem cells in morphology, passaging, surface and pluripotency markers, normal karyotype, gene expression, DNA methylation of critical pluripotency genes, and in-vitro differentiation. The directed differentiation of the iPSCs into hematopoietic lineage cells displayed increased expression of the hematopoietic lineage markers such as CD34, CD133, RUNX1, KDR, α-globulin, and γ-globulin. Such specific stem cells provide an unprecedented opportunity to produce a universal blood group donor, in-vitro, thus enabling cellular replacement therapies, once the safety issue is resolved.</description><subject>60 APPLIED LIFE SCIENCES</subject><subject>ABO Blood-Group System</subject><subject>Amino Acid Sequence</subject><subject>ANTIGENS</subject><subject>Base Sequence</subject><subject>BLOOD CELLS</subject><subject>Blood Donors</subject><subject>Blood group systems</subject><subject>BLOOD GROUPS</subject><subject>Bombay phenotype</subject><subject>Cell Line</subject><subject>DNA</subject><subject>Erythrocytes - cytology</subject><subject>FIBROBLASTS</subject><subject>Fibroblasts - cytology</subject><subject>Fibroblasts - metabolism</subject><subject>Fucosyltransferases - genetics</subject><subject>FUT1 and FUT2 genes</subject><subject>Galactoside 2-alpha-L-fucosyltransferase</subject><subject>Gene Expression</subject><subject>GENES</subject><subject>GLOBULINS</subject><subject>Hematopoiesis</subject><subject>Humans</subject><subject>IN VITRO</subject><subject>Induced pluripotent stem cells</subject><subject>KARYOTYPE</subject><subject>Kruppel-Like Factor 4</subject><subject>METHYLATION</subject><subject>Mutation, Missense</subject><subject>MUTATIONS</subject><subject>PHENOTYPE</subject><subject>Pluripotent Stem Cells - cytology</subject><subject>Pluripotent Stem Cells - metabolism</subject><subject>STEM CELLS</subject><subject>THERAPY</subject><subject>TRANSCRIPTION FACTORS</subject><subject>Transcription Factors - genetics</subject><issn>0006-291X</issn><issn>1090-2104</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNks1u1DAURiMEokPhBVggSyxYJdzrsZMYsYEKClIRG5DYWY5_qEeJPdjJoO7Ke8DL9UlIyEjsoCtvjo-sz6coHiNUCFg_31Vdl3RFAUSFWAFv7xQbBAElRWB3iw0A1CUV-OWkeJDzDgCR1eJ-cYJCIBUt3xQ_zm2wSY0-BhIduZwGFYgPZtLWkH0_Jb-Pow0jyaMdiLZ9n4lLcSCKvI5Dp64W2B-8mVT_gnyIBx--kjF-V8lkcnP9cwr-YFNWfWliiOnm-hdJs7nrYzSr7mFxz6k-20fH87T4_PbNp7N35cXH8_dnry5KzRoxlo61XLSOqoa1W0ONFVxQ5J11LbUdx61xDjTWSijFHKu1AmDzFqrmCqFm29Pi6eqNefQyaz9afaljCFaPktJ5EtHATD1bqX2K3yabRzn4vLxTBRunLNum4Q1llN2KrAVCczuyFbz9L9lstw1wbMVM0pXUKeacrJP75AeVriSCXOqQO7nUIZc6JKKEP_onR_3UDdb8vXLMYQZeroCdP-LgbVp2smFuwadlJhP9v_y_Ab1dzWU</recordid><startdate>20100101</startdate><enddate>20100101</enddate><creator>Seifinejad, Ali</creator><creator>Taei, Adeleh</creator><creator>Totonchi, Mehdi</creator><creator>Vazirinasab, Hamed</creator><creator>Hassani, Seideh Nafiseh</creator><creator>Aghdami, Nasser</creator><creator>Shahbazi, Ebrahim</creator><creator>Yazdi, Reza Salman</creator><creator>Salekdeh, Ghasem Hosseini</creator><creator>Baharvand, Hossein</creator><general>Elsevier Inc</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>7X8</scope><scope>7QO</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>OTOTI</scope></search><sort><creationdate>20100101</creationdate><title>Generation of human induced pluripotent stem cells from a Bombay individual: Moving towards “universal-donor” red blood cells</title><author>Seifinejad, Ali ; Taei, Adeleh ; Totonchi, Mehdi ; Vazirinasab, Hamed ; Hassani, Seideh Nafiseh ; Aghdami, Nasser ; Shahbazi, Ebrahim ; Yazdi, Reza Salman ; Salekdeh, Ghasem Hosseini ; Baharvand, Hossein</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c479t-f48598f2a7483d2de959215bef82eb513dff0c16a9aa4f46ca004090a65a10643</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>60 APPLIED LIFE SCIENCES</topic><topic>ABO Blood-Group System</topic><topic>Amino Acid Sequence</topic><topic>ANTIGENS</topic><topic>Base Sequence</topic><topic>BLOOD CELLS</topic><topic>Blood Donors</topic><topic>Blood group systems</topic><topic>BLOOD GROUPS</topic><topic>Bombay phenotype</topic><topic>Cell Line</topic><topic>DNA</topic><topic>Erythrocytes - cytology</topic><topic>FIBROBLASTS</topic><topic>Fibroblasts - cytology</topic><topic>Fibroblasts - metabolism</topic><topic>Fucosyltransferases - genetics</topic><topic>FUT1 and FUT2 genes</topic><topic>Galactoside 2-alpha-L-fucosyltransferase</topic><topic>Gene Expression</topic><topic>GENES</topic><topic>GLOBULINS</topic><topic>Hematopoiesis</topic><topic>Humans</topic><topic>IN VITRO</topic><topic>Induced pluripotent stem cells</topic><topic>KARYOTYPE</topic><topic>Kruppel-Like Factor 4</topic><topic>METHYLATION</topic><topic>Mutation, Missense</topic><topic>MUTATIONS</topic><topic>PHENOTYPE</topic><topic>Pluripotent Stem Cells - cytology</topic><topic>Pluripotent Stem Cells - metabolism</topic><topic>STEM CELLS</topic><topic>THERAPY</topic><topic>TRANSCRIPTION FACTORS</topic><topic>Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Seifinejad, Ali</creatorcontrib><creatorcontrib>Taei, Adeleh</creatorcontrib><creatorcontrib>Totonchi, Mehdi</creatorcontrib><creatorcontrib>Vazirinasab, Hamed</creatorcontrib><creatorcontrib>Hassani, Seideh Nafiseh</creatorcontrib><creatorcontrib>Aghdami, Nasser</creatorcontrib><creatorcontrib>Shahbazi, Ebrahim</creatorcontrib><creatorcontrib>Yazdi, Reza Salman</creatorcontrib><creatorcontrib>Salekdeh, Ghasem Hosseini</creatorcontrib><creatorcontrib>Baharvand, Hossein</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Biotechnology Research Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>OSTI.GOV</collection><jtitle>Biochemical and biophysical research communications</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Seifinejad, Ali</au><au>Taei, Adeleh</au><au>Totonchi, Mehdi</au><au>Vazirinasab, Hamed</au><au>Hassani, Seideh Nafiseh</au><au>Aghdami, Nasser</au><au>Shahbazi, Ebrahim</au><au>Yazdi, Reza Salman</au><au>Salekdeh, Ghasem Hosseini</au><au>Baharvand, Hossein</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Generation of human induced pluripotent stem cells from a Bombay individual: Moving towards “universal-donor” red blood cells</atitle><jtitle>Biochemical and biophysical research communications</jtitle><addtitle>Biochem Biophys Res Commun</addtitle><date>2010-01-01</date><risdate>2010</risdate><volume>391</volume><issue>1</issue><spage>329</spage><epage>334</epage><pages>329-334</pages><issn>0006-291X</issn><eissn>1090-2104</eissn><abstract>Bombay phenotype is one of the rare phenotypes in the ABO blood group system that fails to express ABH antigens on red blood cells. Nonsense or missense mutations in fucosyltransfrase1 (FUT1) and fucosyltransfrase2 (FUT2) genes are known to create this phenotype. This blood group is compatible with all other blood groups as a donor, as it does not express the H antigen on the red blood cells. In this study, we describe the establishment of human induced pluripotent stem cells (iPSCs) from the dermal fibroblasts of a Bombay blood-type individual by the ectopic expression of established transcription factors Klf4, Oct4, Sox2, and c-Myc. Sequence analyses of fibroblasts and iPSCs revealed a nonsense mutation 826C to T (276 Gln to Ter) in the FUT1 gene and a missense mutation 739G to A (247 Gly to Ser) in the FUT2 gene in the Bombay phenotype under study. The established iPSCs resemble human embryonic stem cells in morphology, passaging, surface and pluripotency markers, normal karyotype, gene expression, DNA methylation of critical pluripotency genes, and in-vitro differentiation. The directed differentiation of the iPSCs into hematopoietic lineage cells displayed increased expression of the hematopoietic lineage markers such as CD34, CD133, RUNX1, KDR, α-globulin, and γ-globulin. Such specific stem cells provide an unprecedented opportunity to produce a universal blood group donor, in-vitro, thus enabling cellular replacement therapies, once the safety issue is resolved.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>19912985</pmid><doi>10.1016/j.bbrc.2009.11.058</doi><tpages>6</tpages></addata></record> |
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subjects | 60 APPLIED LIFE SCIENCES ABO Blood-Group System Amino Acid Sequence ANTIGENS Base Sequence BLOOD CELLS Blood Donors Blood group systems BLOOD GROUPS Bombay phenotype Cell Line DNA Erythrocytes - cytology FIBROBLASTS Fibroblasts - cytology Fibroblasts - metabolism Fucosyltransferases - genetics FUT1 and FUT2 genes Galactoside 2-alpha-L-fucosyltransferase Gene Expression GENES GLOBULINS Hematopoiesis Humans IN VITRO Induced pluripotent stem cells KARYOTYPE Kruppel-Like Factor 4 METHYLATION Mutation, Missense MUTATIONS PHENOTYPE Pluripotent Stem Cells - cytology Pluripotent Stem Cells - metabolism STEM CELLS THERAPY TRANSCRIPTION FACTORS Transcription Factors - genetics |
title | Generation of human induced pluripotent stem cells from a Bombay individual: Moving towards “universal-donor” red blood cells |
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