Cellosaurus cell line YCMi004-A (CVCL

Cross-references
Cell line name	YCMi004-A
Synonyms	YCMi004-hDCM004-A
Accession	CVCL_A0JS
Resource Identification Initiative	To cite this cell line use: YCMi004-A (RRID:CVCL_A0JS)
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:12403; TTN; Simple; p.Arg23351Ter (c.70051C>T); ClinVar=VCV000405145; Zygosity=Heterozygous (PubMed=34952434).
Disease	Dilated cardiomyopathy-1G (NCIt: C182078) Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	24Y
Category	Induced pluripotent stem cell
Publications	PubMed=34952434; DOI=10.1016/j.scr.2021.102629 Sun-Ho Lee, Jaewon Oh, Seung-Tae Lee, Dongju Won, Sangwoo Kim, Hyo-Kyoung Choi, Seok-Jun Kim, Hyunho Han, Minjae Yoon, Jong Rak Choi, Ho-Geun Yoon ...Show all 14 authors... , Sahng Wook Park, Seok-Min Kang, Seng-Hyun Lee; Show fewer authors Generation of a human induced pluripotent stem cell line YCMi004-A from a patient with dilated cardiomyopathy carrying a protein-truncating mutation of the titin gene and its differentiation towards cardiomyocytes. Stem Cell Res. 59:102629-102629(2022)
Cell line databases/resources	hPSCreg; YCMi004-A
Biological sample resources	BioSamples; SAMEA9405922
Encyclopedic resources	Wikidata; Q108821545
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6