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Cellosaurus GM03064 (CVCL_4N38)

[Text version]
Cell line name GM03064
Accession CVCL_4N38
Resource Identification Initiative To cite this cell line use: GM03064 (RRID:CVCL_4N38)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6547; LDLR; Simple; p.Gly219del (c.651TGG[1]) (c.654_656delTGG) (G197del, c.652delGGT); ClinVar=VCV000226329; Zygosity=Heterozygous (from familial inference of GM03040).
Disease Hyperlipoproteinemia, type IIa (NCIt: C123416)
Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 29Y
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; GM03064
Cell line databases/resources CLO; CLO_0013503
Biological sample resources BioSample; SAMN00808232
Encyclopedic resources Wikidata; Q54837845
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number11