ID   CBCHi001-A-1
AC   CVCL_C1SU
DR   BioSamples; SAMEA13855333
DR   hPSCreg; CBCHi001-A-1
DR   Wikidata; Q114310765
CC   From: Beijing Chest Hospital; Beijing; China.
CC   Sequence variation: Mutation; HGNC; 143; ACTC1; Simple_edited; p.Glu239Gln (c.715G>C); ClinVar=VCV000520471; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=CBCHi001-A-1).
DI   NCIt; C188990; Familial hypertrophic cardiomyopathy type 11
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C1ST ! CBCHi001-A
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
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