ID   YCMi002-A
AC   CVCL_A1ND
SY   F7epi7
DR   BioSamples; SAMEA8714264
DR   hPSCreg; YCMi002-A
DR   Wikidata; Q102115141
RX   PubMed=33038747;
CC   From: Yonsei University College of Medicine; Seoul; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 3544; F7; Simple; p.Cys115Ter (c.345C>A); Zygosity=Heterozygous (PubMed=33038747).
CC   Sequence variation: Mutation; HGNC; 3544; F7; Simple; p.Gln426Ter (c.1276C>T); Zygosity=Heterozygous (PubMed=33038747).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C98939; Hereditary factor VII deficiency
DI   ORDO; Orphanet_327; Congenital factor VII deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=33038747; DOI=10.1016/j.scr.2020.102026;
RA   Kim D.-H., Park C.-Y., Cho S.-R., Kim D.-W.;
RT   "Generation of a human induced pluripotent stem cell line, YCMi002-A,
RT   from a Factor VII deficiency patient carrying F7 mutations.";
RL   Stem Cell Res. 49:102026-102026(2020).
//