ID   GM02744
AC   CVCL_IX35
DR   CLO; CLO_0014835
DR   BioSample; SAMN00808076
DR   Coriell; GM02744
DR   Wikidata; Q54837665
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00556;
CC   Population: Caucasian; Greek.
CC   Sequence variation: Mutation; HGNC; HGNC:1368; CA1; Simple; p.Arg247His (c.740G>A) (R246H); ClinVar=VCV000017606; Zygosity=Homozygous (CelloPub=CLPUB00556).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C132290; Carbonic anhydrase I deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   17Y
CA   Transformed cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   CelloPub=CLPUB00556;
RA   Wagner L.E., Venta P.J., Tashian R.E.;
RT   "A human carbonic anhydrase I deficiency appears to be caused by a
RT   destabilizing amino acid substitution (246-Arg->His).";
RL   Isozyme Bull. 24:35-35(1991).
//