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Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene

Authors :
Jeanette Beers
Xiuli Huang
Wei Zheng
Paul B. Yu
Amanda Roeder
Chengyu Liu
Rong Li
Jizhong Zou
Source :
Stem Cell Research, Vol 54, Iss, Pp 102424-(2021)
Publication Year :
2021
Publisher :
Elsevier BV, 2021.

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of progressive ossification of skeletal muscle, fascia, tendons, and ligaments. Most FOP cases are caused by a heterozygous c. 617G > A mutation in the ACVR1 gene which encodes a gain-of-function of bone morphogenetic protein type I receptor. A human induced pluripotent stem cell (iPSC) line was generated from the dermal skin fibroblasts of a FOP patient who carries the c. 617G > A mutation in the ACVR1 gene. This iPSC line provides an attractive resource for FOP disease modeling.

Details

ISSN :
18735061
Volume :
54
Database :
OpenAIRE
Journal :
Stem Cell Research
Accession number :
edsair.doi.dedup.....e3a845d93bcdc26a3e04ffcbf9d6824f
Full Text :
https://doi.org/10.1016/j.scr.2021.102424