ID   FMUFAHi002-A
AC   CVCL_C0FV
SY   FSHD-WW01
DR   hPSCreg; FMUFAHi002-A
DR   Wikidata; Q112929567
RX   PubMed=35093715;
CC   From: The First Affiliated Hospital, Fujian Medical University; Fuzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Unspecified; Note=D4Z4 repeat contraction (to 4 repeats) (PubMed=35093715).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C172704; Facioscapulohumeral muscular dystrophy 1
DI   ORDO; Orphanet_269; Facioscapulohumeral dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=35093715; DOI=10.1016/j.scr.2022.102678;
RA   Zheng, Fu-Ze
RA   Chen, Long
RA   Qiu, Liang-Liang
RA   Lin, Lin
RA   Lin, Xin
RA   He, Qi-Fang
RA   Wang, Li-Li
RA   Ye, Zhi-Xian
RA   Lin, Min-Ting
RA   Wang, Zhi-Qiang
RT   "Reprogramming of adult human peripheral blood mononuclear cells into
RT   hiPSCs from two patients with facioscapulohumeral muscular dystrophy
RT   type 1.";
RL   Stem Cell Res. 60:102678-102678(2022).
//