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Cellosaurus YCMi006-A (CVCL_B6RI)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; YCMi006-A
Biological sample resources BioSamples; SAMEA12870538
Encyclopedic resources Wikidata; Q112041943
Entry history
Entry creation17-Mar-2022
Last entry update29-Jun-2023
Version number5