Cellosaurus logo
expasy logo

Cellosaurus GM03111 (CVCL_7373)

[Text][XML][JSON]
Cell line name GM03111
Accession CVCL_7373
Resource Identification Initiative To cite this cell line use: GM03111 (RRID:CVCL_7373)
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:6617; LIPA; Simple; p.Gln298Gln (c.894G>A); ClinVar=VCV000203361; Zygosity=Heterozygous; Note=Affects splicing (Coriell=GM03111).
  • Mutation; HGNC; HGNC:6617; LIPA; Simple; p.Ser323Leufs*44 (c.967_968delAG); Zygosity=Heterozygous (Coriell=GM03111).
Disease Wolman disease (NCIt: C61271)
Wolman disease (ORDO: Orphanet_75233)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 22Y
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; GM03111
Cell line databases/resources CLO; CLO_0013553
Biological sample resources BioSample; SAMN00808252
Encyclopedic resources Wikidata; Q54837875
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number19