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Cellosaurus MCCI0001i-HCM (CVCL_QX48)

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Cell line name MCCI0001i-HCM
Accession CVCL_QX48
Resource Identification Initiative To cite this cell line use: MCCI0001i-HCM (RRID:CVCL_QX48)
Comments From: Molecular Cardiology, Centenary Institute of Cancer Medicine and Cell Biology; Camperdown; Australia.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1391; CACNA1D; Simple; p.Glu827Lys (c.2479G>A) (p.Glu847Lys, c.2539G>A); ClinVar=VCV001371026; Zygosity=Heterozygous (PubMed=28395744).
  • Mutation; HGNC; HGNC:12582; UQCRB; Simple; p.Arg34Gln (c.101G>A) (p.Arg2Gln, c.5G>A); Zygosity=Heterozygous (PubMed=28395744).
Disease Hypertrophic cardiomyopathy (NCIt: C34449)
Hypertrophic cardiomyopathy (ORDO: Orphanet_217569)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 62Y
Category Induced pluripotent stem cell
Publications

PubMed=28395744; DOI=10.1016/j.scr.2017.02.016
Samantha Barratt Ross, Stuart T. Fraser, Richard D. Bagnall, Christopher Semsarian;
Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy.
Stem Cell Res. 20:76-79(2017)

Cross-references
Encyclopedic resources Wikidata; Q54904262
Entry history
Entry creation15-Nov-2017
Last entry update10-Apr-2025
Version number13