Additional file 1 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
Additional file 1. Characteristics of subjects in pedigree modeled here. (.jpg). (A) The study samples were derived from a pedigree with 15q13.3 duplication, with differential clinical affectation indicated by shading of subjects. The affected proband (AP) is represented in black, his affected broth...
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Zusammenfassung: | Additional file 1. Characteristics of subjects in pedigree modeled here. (.jpg). (A) The study samples were derived from a pedigree with 15q13.3 duplication, with differential clinical affectation indicated by shading of subjects. The affected proband (AP) is represented in black, his affected brother, shown in gray, exhibits subtle autistic traits and has more volatile emotional dysregulation than the AP, while the unaffected mother (UM) and father are shown in white. Renal epithelial cells from the family members indicated (*) were used to derive iPSC models. (B) CNV array data for the AP and UM shows the signal intensity (log2 weighted ratio) and predicted copy number across the duplicated region of 15q13.3. The region lacking signal was not covered by the CNV array used for this analysis. |
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DOI: | 10.6084/m9.figshare.15071239 |