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Cellosaurus GM04994 (CVCL_Y109)

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Cell line name GM04994
Accession CVCL_Y109
Resource Identification Initiative To cite this cell line use: GM04994 (RRID:CVCL_Y109)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:57; ABCC6; Simple; p.Arg1141Ter (c.3421C>T); ClinVar=VCV000006559; Zygosity=Heterozygous (Coriell=GM04994).
  • Mutation; HGNC; HGNC:57; ABCC6; Simple; p.Arg1164Ter (c.3490C>T); ClinVar=VCV000006572; Zygosity=Heterozygous (Coriell=GM04994).
Disease Pseudoxanthoma elasticum (NCIt: C85036)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 60Y
Category Finite cell line
Publications

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; GM04994
Cell line databases/resources CLO; CLO_0025651
Encyclopedic resources Wikidata; Q54838798
Entry history
Entry creation07-Nov-2014
Last entry update19-Dec-2024
Version number15