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Cellosaurus GM00697 (CVCL_DN47)

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Cell line name GM00697
Synonyms GM-697
Accession CVCL_DN47
Resource Identification Initiative To cite this cell line use: GM00697 (RRID:CVCL_DN47)
Comments Population: Lebanese.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:18640; LDLRAP1; Simple; p.Gln136Ter (c.406C>T); ClinVar=VCV000004775; Zygosity=Homozygous (Coriell=GM00697).
Disease Hypercholesterolemia, familial, 4 (NCIt: C128114)
Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 17Y
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; GM00697
Cell line databases/resources CLO; CLO_0028938
Encyclopedic resources Wikidata; Q54836396
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14