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Cellosaurus YCMi004-A (CVCL_A0JS)

[Text version]
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; 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
Lee S.-H., Oh J., Lee S.-T., Won D., Kim S., Choi H.-K., Kim S.-J., Han H., Yoon M., Choi J.R., Yoon H.-G., Park S.W., Kang S.-M., Lee S.-H.
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)

Cross-references
Cell line databases/resources hPSCreg; YCMi004-A
Biological sample resources BioSamples; SAMEA9405922
Encyclopedic resources Wikidata; Q108821545
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number5