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Cellosaurus GM01655 (CVCL_D514)

[Text version]
Cell line name GM01655
Synonyms GM-1655; GM 1655; GM1655
Accession CVCL_D514
Resource Identification Initiative To cite this cell line use: GM01655 (RRID:CVCL_D514)
Comments Population: Caucasian; Mennonite.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 986; BCKDHA; Simple; p.Tyr438Asn (c.1312T>A) (Y393N); ClinVar=VCV000100009; Zygosity=Homozygous (PubMed=2241958).
Disease Maple syrup urine disease (NCIt: C34806)
Maple syrup urine disease (ORDO: Orphanet_511)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D513 ! GM01654
Sex of cell Female
Age at sampling 5Y
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=2241958; DOI=10.1016/0006-291X(90)90723-Z
Matsuda I., Nobukuni Y., Mitsubuchi H., Indo Y., Endo F., Asaka J., Harada A.
A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.
Biochem. Biophys. Res. Commun. 172:646-651(1990)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

Cross-references
Cell line collections (Providers) Coriell; GM01655
Cell line databases/resources CLO; CLO_0030943
Biological sample resources BioSample; SAMN00807033
Encyclopedic resources Wikidata; Q54836987
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number17