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2020-11-19

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cc-by (c) Kuebler, B. et al., 2020
Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/175783

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

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https://doi.org/10.1016/j.scr.2020.102092

Abstract

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.

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Síndrome de Williams

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Williams syndrome

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Articles publicats en revistes (Genètica, Microbiologia i Estadística)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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KUEBLER, B., et al. Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome. Stem Cell Research. 2020. Vol. 49, num. 102092. ISSN 1873-5061. [consulted: 14 of August of 2026]. Available at: https://hdl.handle.net/2445/175783

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