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Cellosaurus GM02744 (CVCL_IX35)

[Text version]
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; 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)

Cross-references
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 creation15-May-2017
Last entry update29-Jun-2023
Version number12