ID   MCRIi001-A-1
AC   CVCL_WN06
SY   MCRIi001-A-OI26; PB001-OI26
DR   BioSamples; SAMEA5873307
DR   hPSCreg; MCRIi001-A-1
DR   Wikidata; Q95986992
RX   PubMed=31075690;
CC   From: Murdoch Children's Research Institute; Melbourne; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2197; COL1A1; Simple_edited; p.Val1324Cysfs (c.3969dupT) (c.3969_3970insT); ClinVar=VCV000017308; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31075690).
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)
HI   CVCL_UK82 ! MCRIi001-A
SX   Male
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 05-10-23; Version: 9
//
RX   PubMed=31075690; DOI=10.1016/j.scr.2019.101449;
RA   Hosseini Far H., Patria Y.N., Motazedian A., Elefanty A.G.,
RA   Stanley E.G., Lamande S.R., Bateman J.F.;
RT   "Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis
RT   imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9
RT   editing.";
RL   Stem Cell Res. 37:101449-101449(2019).
//