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Cellosaurus GM08781 (CVCL_DD82)

[Text version]
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; 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)

Cross-references
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 creation13-Jul-2016
Last entry update29-Jun-2023
Version number9