Cellosaurus cell line ICSSUi006-A (CVCL

Cross-references
Cell line name	ICSSUi006-A
Synonyms	hiPSCs-TNNT2c.A553G; hiPSCs-cTnTp.K185E
Accession	CVCL_D6NW
Resource Identification Initiative	To cite this cell line use: ICSSUi006-A (RRID:CVCL_D6NW)
Comments	From: Institute for Cardiovascular Science of Soochow University; Suzhou; China. Population: Chinese. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11949; TNNT2; Simple; p.Lys185Glu (c.553A>G); ClinVar=VCV002682717; Zygosity=Heterozygous (PubMed=38861774).
Disease	Familial hypertrophic cardiomyopathy type 2 (NCIt: C142892) Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739) Dilated cardiomyopathy (NCIt: C84673) Dilated cardiomyopathy (ORDO: Orphanet_217604)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	53Y
Category	Induced pluripotent stem cell
Publications	PubMed=38861774; DOI=10.1016/j.scr.2024.103467 Ye L.-Q., Ni B.-Q., Wu H.-C., Han X.-L., Li H.-D., Liu J.-W., Hu S.-J., Lei W. Establishment of a human induced pluripotent stem cell line from a patient with dilated cardiomyopathy. Stem Cell Res. 78:103467-103467(2024)
Cell line databases/resources	hPSCreg; ICSSUi006-A
Biological sample resources	BioSamples; SAMEA115432439
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2