ID   MCRIi019-A-6
AC   CVCL_D0HR
SY   1502-COL2A1 p.R719C; 1502.3 COL2A1 p.R719C
DR   hPSCreg; MCRIi019-A-6
DR   Wikidata; Q123033010
RX   PubMed=36682125;
CC   From: Murdoch Children's Research Institute; Melbourne; Australia.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 2200; COL2A1; Simple_edited; p.Arg719Cys (c.2155C>T); ClinVar=VCV000017353; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36682125).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C202115; Osteoarthritis with mild chondrodysplasia
DI   ORDO; Orphanet_93279; Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A9XY ! MCRIi019-A
SX   Female
AG   12FW
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=36682125; DOI=10.1016/j.scr.2023.103020;
RA   Yammine K.M., Mirda Abularach S., Sampurno L., Bateman J.F.,
RA   Lamande S.R., Shoulders M.D.;
RT   "Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line
RT   (MCRIi019-A-6) model of human precocious osteoarthritis.";
RL   Stem Cell Res. 67:103020-103020(2023).
//