ID   GM07381
AC   CVCL_0M49
DR   CLO; CLO_0016929
DR   Coriell; GM07381
DR   Wikidata; Q54842704
RX   CelloPub=CLPUB00447;
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM07381).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; c.3718-2477C>T (3849+10KB,C>T); ClinVar=VCV000007166; Zygosity=Heterozygous (Coriell=GM07381).
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   11Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 17
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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).
//