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Cellosaurus GM02327 (CVCL_AD65)

[Text version]
Cell line name GM02327
Synonyms GM2327; GM-2327
Accession CVCL_AD65
Resource Identification Initiative To cite this cell line use: GM02327 (RRID:CVCL_AD65)
Comments Population: Caucasian; Mennonite.
Derived from site: In situ; Heart, pericardium; UBERON=UBERON_0002407.
Cell type: Fibroblast of heart; CL=CL_0002548.
Sequence variations
  • Mutation; HGNC; 986; BCKDHA; Simple; p.Tyr438Asn (c.1312T>A) (Y393N); ClinVar=VCV000100009; Zygosity=Homozygous (from familial inference of GM01099).
Disease Maple syrup urine disease (NCIt: C34806)
Maple syrup urine disease (ORDO: Orphanet_511)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4M
Category Finite 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)

CLPUB00720
Greene A.E., Mulivor R.A.
1986/1987 catalog of cell lines. NIGMS human genetic mutant cell repository. 13th edition. October 1986.
(In) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda (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) 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; GM02327
Cell line databases/resources CLO; CLO_0032179
Biological sample resources BioSample; SAMN00807697
Encyclopedic resources Wikidata; Q54837428
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number14