ID   MCRIi018-A
SY   OI64-mutant
DR   BioSamples; SAMEA7211803
DR   hPSCreg; MCRIi018-A
DR   Wikidata; Q95987018
RX   PubMed=31082677;
CC   From: Murdoch Children's Research Institute; Melbourne; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2197; COL1A1; Simple; p.Trp1312Cys (c.3936G>T); ClinVar=VCV000017335; Zygosity=Heterozygous (PubMed=31082677).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C26837; Osteogenesis imperfecta
DI   ORDO; Orphanet_666; Osteogenesis imperfecta
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_WN59 ! MCRIi018-B
SX   Female
AG   <1M
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 30-01-24; Version: 10
RX   PubMed=31082677; DOI=10.1016/j.scr.2019.101453;
RA   Howden S., Hosseini Far H., Motazedian A., Elefanty A.G.,
RA   Stanley E.G., Lamande S.R., Bateman J.F.;
RT   "The use of simultaneous reprogramming and gene correction to generate
RT   an osteogenesis imperfecta patient COL1A1 c.3936G>T iPSC line and an
RT   isogenic control iPSC line.";
RL   Stem Cell Res. 38:101453-101453(2019).