Cellosaurus cell line GM02795 (CVCL

Cellosaurus GM02795 (CVCL_F027)

Cross-references
Cell line name	GM02795
Synonyms	GM 2795; GM2795; GM02795A
Accession	CVCL_F027
Resource Identification Initiative	To cite this cell line use: GM02795 (RRID:CVCL_F027)
Comments	Population: Caucasian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4135; GALT; Simple; p.Val44Met (c.130G>A); ClinVar=VCV000003611; Zygosity=Heterozygous (PubMed=2011574). Mutation; HGNC; HGNC:4135; GALT; Simple; p.Met142Lys (c.425T>A); ClinVar=VCV000003609; Zygosity=Heterozygous (PubMed=2011574).
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_F026 ! GM01907
Sex of cell	Male
Age at sampling	7Y
Category	Transformed cell line
Publications	PubMed=1766867; DOI=10.1093/nar/19.25.7049; PMCID=PMC332510 Reichardt J.K.V. Molecular analysis of 11 galactosemia patients. Nucleic Acids Res. 19:7049-7052(1991) PubMed=2011574; DOI=10.1073/pnas.88.7.2633; PMCID=PMC51292 Reichardt J.K.V., Woo S.L.C. Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Proc. Natl. Acad. Sci. U.S.A. 88:2633-2637(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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)
Cell line collections (Providers)	Coriell; GM02795
Cell line databases/resources	CLO; CLO_0014778
Biological sample resources	BioSample; SAMN00808119
Encyclopedic resources	Wikidata; Q54837690
Entry history
Entry creation	22-Oct-2012
Last entry update	19-Dec-2024
Version number	20