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 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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Kuebler B, Aran B, Flores R, Pérez-Jurado LA, Veiga A, Cuscó I, Corominas R
Journal Stem cell research
Publication Date 2020 Dec;49:102092
PubMed 33254092
DOI 10.1016/j.scr.2020.102092

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