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Cellosaurus GM05004 (CVCL_AA46)

[Text version]
Cell line name GM05004
Synonyms GM5004
Accession CVCL_AA46
Resource Identification Initiative To cite this cell line use: GM05004 (RRID:CVCL_AA46)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 27960; SLC6A19; Simple; p.Asp173Asn (c.517G>A); ClinVar=VCV000002019; Zygosity=Homozygous (Coriell=GM05004).
Disease Hartnup disease (NCIt: C84748)
Hartnup disease (ORDO: Orphanet_2116)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 15Y
Category Finite cell line
Publications

CLPUB00720
Greene A.E., Mulivor R.A.
1986/1987 catalog of cell lines. NIGMS human genetic mutant cell repository. 13th edition. October 1986.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986)

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; GM05004
Cell line databases/resources CLO; CLO_0025675
Encyclopedic resources Wikidata; Q54838803
Entry history
Entry creation23-Feb-2016
Last entry update30-Jan-2024
Version number12