Cellosaurus cell line YCMi006-A (CVCL

Cross-references
Cell line name	YCMi006-A
Accession	CVCL_B6RI
Resource Identification Initiative	To cite this cell line use: YCMi006-A (RRID:CVCL_B6RI)
Comments	From: Yonsei University College of Medicine; Seoul; South Korea. Population: Korean. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Ile343Met (c.1029C>G); ClinVar=VCV001306956; Zygosity=Heterozygous (PubMed=35917599).
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	32Y
Category	Induced pluripotent stem cell
Publications	PubMed=35917599; DOI=10.1016/j.scr.2022.102874 Kim H., Kim H.-J., Oh J., Lee S.-T., Won D., Choi H.-K., Choi J.R., Kim S., Kim H.-P., Kim S.-J., Park S.W., Kang S.-M., Lee S.-H. An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met. Stem Cell Res. 63:102874-102874(2022)
Cell line databases/resources	hPSCreg; YCMi006-A
Biological sample resources	BioSamples; SAMEA12870538
Encyclopedic resources	Wikidata; Q112041943
Entry history
Entry creation	17-Mar-2022
Last entry update	19-Dec-2024
Version number	6