ID   CHOPi012-A
AC   CVCL_C6SS
SY   CHOPACTG2-R257C
DR   BioSamples; SAMEA114192292
DR   hPSCreg; CHOPi012-A
DR   Wikidata; Q117704241
RX   PubMed=37572398;
CC   From: Children's Hospital of Philadelphia; Philadelphia; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 145; ACTG2; Simple; p.Arg257Cys (c.769C>T); ClinVar=VCV000132803; Zygosity=Heterozygous (PubMed=37572398).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201588; Visceral myopathy 1
DI   ORDO; Orphanet_2604; Familial visceral myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 05-10-23; Version: 3
//
RX   PubMed=37572398; DOI=10.1016/j.scr.2023.103176;
RA   Hashmi S.K., Schneider S., Gagne A.L., Maguire J.A., Gadue P.,
RA   Heuckeroth R.O., French D.L.;
RT   "Generation of CHOPi012-A iPSC line from a patient with visceral
RT   myopathy-related chronic intestinal pseudo-obstruction.";
RL   Stem Cell Res. 71:103176-103176(2023).
//