ID   KSCBi006-A
AC   CVCL_WR18
SY   KNIH-OI001i-A
DR   BioSamples; SAMEA5712217
DR   hPSCreg; KSCBi006-A
DR   SKIP; SKIP005598
DR   Wikidata; Q95980260
RX   PubMed=31715426;
CC   From: National Institute of Health, Korea-National Stem Cell Bank (KSCB); Cheongwon-gun; South Korea.
CC   Population: Asian.
CC   HLA typing: A*24:02,24:02; B*15:01,54:01; DRB1*04:03,15:01 (PubMed=31715426).
CC   Sequence variation: Mutation; HGNC; 2197; COL1A1; Simple; p.Gly1055Alafs*53 (c.3162delT); ClinVar=VCV000285398; Zygosity=Unspecified (PubMed=31715426).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26837; Osteogenesis imperfecta
DI   ORDO; Orphanet_666; Osteogenesis imperfecta
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 9
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RX   PubMed=31715426; DOI=10.1016/j.scr.2019.101622;
RA   Kim B.-Y., Ko J.M., Park M.-H., Koo S.K.;
RT   "Generation of a patient-specific induced pluripotent stem cell line,
RT   KSCBi006-A, for osteogenesis imperfecta type I with the COL1A1,
RT   c.3162delT mutation.";
RL   Stem Cell Res. 41:101622-101622(2019).
//