Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome

Skin fibroblasts were obtained from four patients with 7q11.23 microduplication syndrome carrying the reciprocal rearrangement of Williams-Beuren syndrome at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) were generated by retroviral infection of fibroblasts with polycystronic ve...

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Published inStem cell research Vol. 49; p. 102092
Main Authors Kuebler, B., Aran, B., Flores, R., Pérez-Jurado, L.A., Veiga, A., Cuscó, I., Corominas, R.
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.12.2020
Elsevier
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Summary:Skin fibroblasts were obtained from four patients with 7q11.23 microduplication syndrome carrying the reciprocal rearrangement of Williams-Beuren syndrome at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) were generated by retroviral infection of fibroblasts with polycystronic vectors. The generated iPSC clones ESi058B, ESi057B, ESi070A and ESi071A had the 7q11.23 duplication with no additional genomic alterations, a stable karyotype, expressed pluripotency markers and could differentiate towards the three germ layers in vitro via embryoid body formation and in vivo by teratoma formation. Patient’s derived iPSCs are a valuable resource for in vitro modeling of 7q11.23 microduplication syndrome. Resource Table:
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2020.102092