ID   SMBCi014-A
AC   CVCL_B7E2
DR   BioSamples; SAMEA13603429
DR   hPSCreg; SMBCi014-A
DR   Wikidata; Q112930410
RX   PubMed=35660813;
CC   From: Shandong Medical Biotechnological Center; Jinan; China.
CC   Sequence variation: Mutation; HGNC; HGNC:2197; COL1A1; Simple; p.Pro817Leufs*291 (c.2450delC); ClinVar=VCV000035912; Zygosity=Heterozygous (PubMed=35660813).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C99003; Osteogenesis imperfecta type I
DI   ORDO; Orphanet_216796; Osteogenesis imperfecta type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35660813; DOI=10.1016/j.scr.2022.102827;
RA   Luan J., Cui Y.-Z., Wang J., Liang Y.-C., Zhao Y.-N., Zhang G.-L.,
RA   Han J.-X.;
RT   "Generation of a non-integrated induced pluripotent stem cell line
RT   from urine cells of a Chinese osteogenesis imperfecta type I
RT   patient.";
RL   Stem Cell Res. 62:102827-102827(2022).
//