ID   INEUi004-A
AC   CVCL_C9LJ
SY   FHL1-V
DR   BioSamples; SAMEA115040735
DR   hPSCreg; INEUi004-A
DR   Wikidata; Q123032705
RX   PubMed=38244535;
CC   From: Instituto de Neurociencias; Buenos Aires; Argentina.
CC   Population: Latino or Hispanic.
CC   Sequence variation: Mutation; HGNC; 3702; FHL1; Simple; p.Cys126Tyr (c.377G>A); Zygosity=Heterozygous (PubMed=38244535).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206103; X-Linked dominant scapuloperoneal myopathy
DI   ORDO; Orphanet_431272; X-linked scapuloperoneal muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-09-24; Version: 4
//
RX   PubMed=38244535; DOI=10.1016/j.scr.2024.103307;
RA   Zabalegui F., Castaneda S.L., Amin G., Belli C., Miriuka S.G.,
RA   Moro L.N.;
RT   "Derivation of two human induced pluripotent stem cell lines carrying
RT   a missense mutation in FHL1 (c.377G > A, p.C126Y) linked to familial
RT   muscular dystrophy.";
RL   Stem Cell Res. 75:103307-103307(2024).
//