ID   GM08781
AC   CVCL_DD82
DR   CLO; CLO_0010484
DR   BioSample; SAMN00798198
DR   Coriell; GM08781
DR   Wikidata; Q54843295
RX   CelloPub=CLPUB00447;
RX   PubMed=1953667;
RX   PubMed=6469997;
CC   Population: Caucasian; Swiss.
CC   Sequence variation: Mutation; HGNC; 2197; COL1A1; Simple; p.Gly869Cys (c.2605G>T); ClinVar=VCV00001729; Zygosity=Heterozygous (PubMed=1953667).
CC   Derived from site: In situ; Abdomen, skin; UBERON=UBERON_0001416.
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   Male
AG   1D
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 9
//
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=1953667; DOI=10.1042/bj2790747; PMCID=PMC1151509;
RA   Steinmann B., Westerhausen A., Deltas Constantinou C.,
RA   Superti-Furga A., Prockop D.J.;
RT   "Substitution of cysteine for glycine-alpha 1-691 in the pro alpha
RT   1(I) chain of type I procollagen in a proband with lethal osteogenesis
RT   imperfecta destabilizes the triple helix at a site C-terminal to the
RT   substitution.";
RL   Biochem. J. 279:747-752(1991).
//
RX   PubMed=6469997; DOI=10.1016/S0021-9258(18)90631-9;
RA   Steinmann B., Rao V.H., Vogel A., Bruckner P., Gitzelmann R.,
RA   Byers P.H.;
RT   "Cysteine in the triple-helical domain of one allelic product of the
RT   alpha 1(I) gene of type I collagen produces a lethal form of
RT   osteogenesis imperfecta.";
RL   J. Biol. Chem. 259:11129-11138(1984).
//