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Cellosaurus GM01448 (CVCL_4N13)

[Text version]
Cell line name GM01448
Synonyms GM-1448; GM01448A
Accession CVCL_4N13
Resource Identification Initiative To cite this cell line use: GM01448 (RRID:CVCL_4N13)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6547; LDLR; Simple; p.Gly219del (c.651TGG[1]) (c.654_656delTGG) (G197del, c.652delGGT); ClinVar=VCV000226329; Zygosity=Heterozygous (Coriell=GM01448).
Disease Hyperlipoproteinemia, type IIa (NCIt: C123416)
Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 18Y
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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)

PubMed=12406975; DOI=10.1093/clinchem/48.11.1913
Bodamer O.A., Bercovich D., Schlabach M., Ballantyne C., Zoch D., Beaudet A.L.
Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.
Clin. Chem. 48:1913-1918(2002)

Cross-references
Cell line collections (Providers) Coriell; GM01448
Cell line databases/resources CLO; CLO_0030879
Biological sample resources BioSample; SAMN00803900
Encyclopedic resources Wikidata; Q54836837
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number16