ID   MCRIi019-A-2
AC   CVCL_A9XZ
SY   1502-COL2A1 p.G1170S; 1502.3 COL2A1 p.G1170S
DR   hPSCreg; MCRIi019-A-2
DR   Wikidata; Q102114511
RX   PubMed=33002832;
CC   From: Murdoch Children's Research Institute; Melbourne; Australia.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 2200; COL2A1; Simple_edited; p.Gly1170Ser (c.3508_3510GGT>TCA); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33002832).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34766; Perthes disease
DI   ORDO; Orphanet_2380; Legg-Calve-Perthes disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A9XY ! MCRIi019-A
SX   Female
AG   12FW
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 05-10-23; Version: 7
//
RX   PubMed=33002832; DOI=10.1016/j.scr.2020.101962;
RA   Kung L.H.-W., Sampurno L., Yammine K.M., Graham A., McDonald P.,
RA   Bateman J.F., Shoulders M.D., Lamande S.R.;
RT   "CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human
RT   chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line,
RT   MCRIi019-A.";
RL   Stem Cell Res. 48:101962-101962(2020).
//