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Cellosaurus CHOPi012-A (CVCL_C6SS)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; CHOPi012-A
Biological sample resources BioSamples; SAMEA114192292
Encyclopedic resources Wikidata; Q117704241
Entry history
Entry creation21-Mar-2023
Last entry update05-Oct-2023
Version number3