Cellosaurus cell line GM08781 (CVCL

Cellosaurus GM08781 (CVCL_DD82)

Cross-references
Cell line name	GM08781
Accession	CVCL_DD82
Resource Identification Initiative	To cite this cell line use: GM08781 (RRID:CVCL_DD82)
Comments	Population: Caucasian; Swiss. Derived from site: In situ; Abdomen, skin; UBERON=UBERON_0001416. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2197; COL1A1; Simple; p.Gly869Cys (c.2605G>T); ClinVar=VCV00001729; Zygosity=Heterozygous (PubMed=1953667).
Disease	Osteogenesis imperfecta type II (NCIt: C99001) Osteogenesis imperfecta type 2 (ORDO: Orphanet_216804)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	1D
Category	Finite cell line
Publications	PubMed=6469997; DOI=10.1016/S0021-9258(18)90631-9 Steinmann B., Rao V.H., Vogel A., Bruckner P., Gitzelmann R., Byers P.H. Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J. Biol. Chem. 259:11129-11138(1984) PubMed=1953667; DOI=10.1042/bj2790747; PMCID=PMC1151509 Steinmann B., Westerhausen A., Deltas Constantinou C., Superti-Furga A., Prockop D.J. Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution. Biochem. J. 279:747-752(1991) CLPUB00447 Mulivor R.A., Suchy S.F. 1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992. (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)
Cell line collections (Providers)	Coriell; GM08781
Cell line databases/resources	CLO; CLO_0010484
Biological sample resources	BioSample; SAMN00798198
Encyclopedic resources	Wikidata; Q54843295
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	10