Cellosaurus cell line CHOPi012-A (CVCL

Cross-references
Cell line name	CHOPi012-A
Synonyms	CHOPACTG2-R257C
Accession	CVCL_C6SS
Resource Identification Initiative	To cite this cell line use: CHOPi012-A (RRID:CVCL_C6SS)
Comments	From: Children's Hospital of Philadelphia; Philadelphia; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:145; ACTG2; Simple; p.Arg257Cys (c.769C>T); ClinVar=VCV000132803; Zygosity=Heterozygous (PubMed=37572398).
Disease	Visceral myopathy 1 (NCIt: C201588) Familial visceral myopathy (ORDO: Orphanet_2604)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=37572398; DOI=10.1016/j.scr.2023.103176 Hashmi S.K., Schneider S., Gagne A.L., Maguire J.A., Gadue P., Heuckeroth R.O., French D.L. Generation of CHOPi012-A iPSC line from a patient with visceral myopathy-related chronic intestinal pseudo-obstruction. Stem Cell Res. 71:103176-103176(2023)
Cell line databases/resources	hPSCreg; CHOPi012-A
Biological sample resources	BioSamples; SAMEA114192292
Encyclopedic resources	Wikidata; Q117704241
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	4