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Cellosaurus GM04664 (CVCL_F115)

[Text version]
Cell line name GM04664
Accession CVCL_F115
Resource Identification Initiative To cite this cell line use: GM04664 (RRID:CVCL_F115)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Heterozygous; Note=Splice donor mutation (from familial inference of GM04663).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 32Y
Category Finite cell line
Publications

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; GM04664
Cell line databases/resources CLO; CLO_0019008
Encyclopedic resources Wikidata; Q54838621
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number11