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Cellosaurus CBCHi001-A-1 (CVCL_C1SU)

[Text version]
Cell line name CBCHi001-A-1
Accession CVCL_C1SU
Resource Identification Initiative To cite this cell line use: CBCHi001-A-1 (RRID:CVCL_C1SU)
Comments From: Beijing Chest Hospital; Beijing; China.
Sequence variations
  • Mutation; HGNC; 143; ACTC1; Simple_edited; p.Glu239Gln (c.715G>C); ClinVar=VCV000520471; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=CBCHi001-A-1).
Disease Familial hypertrophic cardiomyopathy type 11 (NCIt: C188990)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_C1ST (CBCHi001-A)
Sex of cell Female
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; CBCHi001-A-1
Biological sample resources BioSamples; SAMEA13855333
Encyclopedic resources Wikidata; Q114310765
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4