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

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 s...

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Published inStem cell research Vol. 48; p. 101967
Main Authors Ababneh, Nidaa A., Ali, Dema, Barham, Raghda, Al-Kurdi, Ban, Sharar, Nour, Al Hadidi, Sabal, Qanno', Omar, Ryalat, Abdee T., Salah, Bareqa, Awidi, Abdalla
Format Journal Article
LanguageEnglish
Published Elsevier B.V 01.10.2020
Elsevier
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Summary: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.
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ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2020.101967