ID   MCRIi019-A-7
AC   CVCL_A1QP
SY   1502-COL2A1 p.G1113C
DR   hPSCreg; MCRIi019-A-7
DR   Wikidata; Q102114512
RX   PubMed=34543885;
CC   From: Murdoch Children's Research Institute; Melbourne; Australia.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 2200; COL2A1; Simple_edited; p.Gly1113Cys (c.3337G>T); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34543885).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C3816; Type II achondrogenesis
DI   ORDO; Orphanet_93296; Achondrogenesis type 2
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_A9XY ! MCRIi019-A
SX   Female
AG   12FW
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 17-03-22; Version: 5
//
RX   PubMed=34543885; DOI=10.1016/j.scr.2021.102515;
RA   Lilianty J., Bateman J.F., Lamande S.R.;
RT   "Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis
RT   mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing.";
RL   Stem Cell Res. 56:102515-102515(2021).
//