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Cellosaurus GM01209 (CVCL_1Y23)

[Text version]
Cell line name GM01209
Synonyms GM-1209; GM 1209
Accession CVCL_1Y23
Resource Identification Initiative To cite this cell line use: GM01209 (RRID:CVCL_1Y23)
Comments Population: Latino or Hispanic; Dominican.
Donor information: Established from monozygotic twin of GM01210 (Cellosaurus=CVCL_1Y24).
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4135; GALT; Simple; p.Asp98His (c.292G>C); ClinVar=VCV000025149; Zygosity=Homozygous (from familial inference of GM01210).
Disease Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9M
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)

PubMed=1766867; DOI=10.1093/nar/19.25.7049
Reichardt J.K.V.
Molecular analysis of 11 galactosemia patients.
Nucleic Acids Res. 19:7049-7052(1991)

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; GM01209
Cell line databases/resources CLO; CLO_0030257
Biological sample resources BioSample; SAMN00803716
Encyclopedic resources Wikidata; Q54836704
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number15