ID   GM07440
AC   CVCL_X463
DR   CLO; CLO_0016860
DR   Coriell; GM07440
DR   Wikidata; Q54842759
RX   CelloPub=CLPUB00447;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; c.489+1G>T (621+1G>T); ClinVar=VCV000038799; Zygosity=Heterozygous; Note=Splice donor mutation (from familial inference of GM07441).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; c.2988+1G>A (3120+1G>A); ClinVar=VCV000007224; Zygosity=Heterozygous; Note=Splice donor mutation (from familial inference of GM07441).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   32Y
CA   Transformed cell line
DT   Created: 05-09-14; Last updated: 02-05-24; Version: 15
//
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//