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Establishment of a human induced pluripotent stem cell line, JUCTCi012-A, from multiple symmetric lipomatosis (MSL) patient carrying a homozygous Arg707Trp (c.2119C > T) mutation in the MFN2 gene

Authors :
Nidaa A. Ababneh
Dema Ali
Raghda Barham
Ban Al-Kurdi
Nour Sharar
Sabal Al Hadidi
Omar Qanno'
Abdee T. Ryalat
Bareqa Salah
Abdalla Awidi
Source :
Stem Cell Research, Vol 48, Iss , Pp 101967- (2020)
Publication Year :
2020
Publisher :
Elsevier, 2020.

Abstract

Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts collected from a 39-year-old multiple symmetric lipomatosis (MLS) female patient carrying a point mutation in MFN2 gene (c.2119C > T). The resulting iPSCs showed typical embryonic-like morphology, expressed pluripotency stem cell markers, retained the normal karyotype after reprogramming and showed the potential to differentiate into three germ layers. This iPSC line can be used for studying MSL disease mechanisms.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
48
Issue :
101967-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.5579fa858eb94996ac4d33fd16265909
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2020.101967