ID   GM10503
AC   CVCL_DD83
SY   JIMM-69
DR   CLO; CLO_0024245
DR   Coriell; GM10503
DR   Wikidata; Q54844503
RX   CelloPub=CLPUB00447;
RX   PubMed=2914942;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2198; COL1A2; Simple; p.Gly997Asp (c.2990G>A); Zygosity=Heterozygous (PubMed=2914942).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C99001; Osteogenesis imperfecta type II
DI   ORDO; Orphanet_216804; Osteogenesis imperfecta type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   <1M
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 11
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=2914942; DOI=10.1016/S0021-9258(19)81713-1;
RA   Baldwin C.T., Deltas Constantinou C., Dumars K.W., Prockop D.J.;
RT   "A single base mutation that converts glycine 907 of the alpha 2(I)
RT   chain of type I procollagen to aspartate in a lethal variant of
RT   osteogenesis imperfecta. The single amino acid substitution near the
RT   carboxyl terminus destabilizes the whole triple helix.";
RL   J. Biol. Chem. 264:3002-3006(1989).
//