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Cellosaurus GM01907 (CVCL_F026)

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Cell line name GM01907
Synonyms GM-1907
Accession CVCL_F026
Resource Identification Initiative To cite this cell line use: GM01907 (RRID:CVCL_F026)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4135; GALT; Simple; p.Val44Met (c.130G>A); ClinVar=VCV000003611; Zygosity=Heterozygous (from autologous cell line GM02795).
  • Mutation; HGNC; HGNC:4135; GALT; Simple; p.Met142Lys (c.425T>A); ClinVar=VCV000003609; Zygosity=Heterozygous (from autologous cell line GM02795).
Disease Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D342 ! GM00054
CVCL_F027 ! GM02795
Sex of cell Male
Age at sampling 6Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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)

Cross-references
Cell line collections (Providers) Coriell; GM01907
Cell line databases/resources CLO; CLO_0032375
Biological sample resources BioSample; SAMN00807296
Encyclopedic resources Wikidata; Q54837174
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number21