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Cellosaurus YCMi002-A (CVCL_A1ND)

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Cell line name YCMi002-A
Synonyms F7epi7
Accession CVCL_A1ND
Resource Identification Initiative To cite this cell line use: YCMi002-A (RRID:CVCL_A1ND)
Comments From: Yonsei University College of Medicine; Seoul; South Korea.
Population: Korean.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:3544; F7; Simple; p.Cys115Ter (c.345C>A); Zygosity=Heterozygous (PubMed=33038747).
  • Mutation; HGNC; HGNC:3544; F7; Simple; p.Gln426Ter (c.1276C>T); Zygosity=Heterozygous (PubMed=33038747).
Disease Hereditary factor VII deficiency (NCIt: C98939)
Congenital factor VII deficiency (ORDO: Orphanet_327)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 19Y
Category Induced pluripotent stem cell
Publications

PubMed=33038747; DOI=10.1016/j.scr.2020.102026
Do-Hun Kim, Chul-Yong Park, Sung-Rae Cho, Dong-Wook Kim;
Generation of a human induced pluripotent stem cell line, YCMi002-A, from a Factor VII deficiency patient carrying F7 mutations.
Stem Cell Res. 49:102026-102026(2020)

Cross-references
Cell line databases/resources hPSCreg; YCMi002-A
Biological sample resources BioSamples; SAMEA8714264
Encyclopedic resources Wikidata; Q102115141
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number8