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Cellosaurus GM06248 (CVCL_5U21)

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Cell line name GM06248
Synonyms GM6248
Accession CVCL_5U21
Resource Identification Initiative To cite this cell line use: GM06248 (RRID:CVCL_5U21)
Comments Population: Native North American; Salish.
Omics: Variations; CNV analysis.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:399; ALB; Simple; c.714-2A>G (IVS6AS,A-G,-2); ClinVar=VCV000018210; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=3353369).
Disease Analbuminemia (NCIt: C124851)
Congenital analbuminemia (ORDO: Orphanet_86816)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 12Y
Category Finite cell line
Publications

PubMed=3353369; DOI=10.1073/pnas.85.7.2125; PMCID=PMC279941
Duane E. Ruffner, Achilles Dugaiczyk;
Splicing mutation in human hereditary analbuminemia.
Proc. Natl. Acad. Sci. U.S.A. 85:2125-2129(1988)

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)

PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Zhen-Ya Tang, Dorit S. Berlin, Lorraine H. Toji, Gokce Altay Toruner, Christine M. Beiswanger, Shashikant Kulkarni, Christa Lese Martin, Beverly S. Emanuel, Michael Christman, Norman P. Gerry;
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)

Cross-references
Cell line collections (Providers) Coriell; GM06248
Cell line databases/resources CLO; CLO_0023108
Encyclopedic resources Wikidata; Q54842237
Entry history
Entry creation23-Feb-2016
Last entry update10-Apr-2025
Version number14