Cellosaurus cell line GM02744 (CVCL

Cross-references
Cell line name	GM02744
Accession	CVCL_IX35
Resource Identification Initiative	To cite this cell line use: GM02744 (RRID:CVCL_IX35)
Comments	Population: Caucasian; Greek. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1368; CA1; Simple; p.Arg247His (c.740G>A) (R246H); ClinVar=VCV000017606; Zygosity=Homozygous (CelloPub=CLPUB00556).
Disease	Carbonic anhydrase I deficiency (NCIt: C132290)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	17Y
Category	Transformed cell line
Publications	CLPUB00556 Wagner L.E., Venta P.J., Tashian R.E. A human carbonic anhydrase I deficiency appears to be caused by a destabilizing amino acid substitution (246-Arg->His). Isozyme Bull. 24:35-35(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; GM02744
Cell line databases/resources	CLO; CLO_0014835
Biological sample resources	BioSample; SAMN00808076
Encyclopedic resources	Wikidata; Q54837665
Entry history
Entry creation	15-May-2017
Last entry update	19-Dec-2024
Version number	13