Cellosaurus cell line YCMi005-A (CVCL

Cross-references
Cell line name	YCMi005-A
Synonyms	YCMi005-hDCM005-A
Accession	CVCL_A0JT
Resource Identification Initiative	To cite this cell line use: YCMi005-A (RRID:CVCL_A0JT)
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; 12010; TPM1; Simple; p.Glu192Lys (c.574G>A); ClinVar=VCV000031882; Zygosity=Heterozygous (PubMed=35176663).
Disease	Familial hypertrophic cardiomyopathy type 3 (NCIt: C182076) Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	67Y
Category	Induced pluripotent stem cell
Publications	PubMed=35176663; DOI=10.1016/j.scr.2022.102707 Cha Y.-J., Jeon S.-B., Oh J., Lee S.-T., Kim S., Kim H., Choi J., Choi H.-K., Won D., Choi J.R., Kim S.-J., Park S.W., Kang S.-M., Lee S.-H. Derivation of YCMi005-A, a human-induced pluripotent stem cell line, from a patient with dilated cardiomyopathy carrying missense variant in TPM1 (p.Glu192Lys). Stem Cell Res. 60:102707-102707(2022)
Cell line databases/resources	hPSCreg; YCMi005-A
Biological sample resources	BioSamples; SAMEA9903714
Encyclopedic resources	Wikidata; Q108821547
Entry history
Entry creation	23-Sep-2021
Last entry update	29-Jun-2023
Version number	5