Cellosaurus logo
expasy logo

Cellosaurus GM10503 (CVCL_DD83)

[Text][XML][JSON]
Cell line name GM10503
Synonyms JIMM-69
Accession CVCL_DD83
Resource Identification Initiative To cite this cell line use: GM10503 (RRID:CVCL_DD83)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2198; COL1A2; Simple; p.Gly997Asp (c.2990G>A); Zygosity=Heterozygous (PubMed=2914942).
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 Female
Age at sampling <1M
Category Finite cell line
Publications

PubMed=2914942; DOI=10.1016/S0021-9258(19)81713-1
Clinton T. Baldwin, Constantinos Deltas Constantinou, Kenneth W. Dumars, Darwin Johnson Prockop;
A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix.
J. Biol. Chem. 264:3002-3006(1989)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM10503
Cell line databases/resources CLO; CLO_0024245
Encyclopedic resources Wikidata; Q54844503
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number11