ID   DD1058
AC   CVCL_9D70
DR   ECACC; 92111314
DR   Wikidata; Q54829510
CC   Part of: ECACC chromosomal abnormality collection.
CC   Karyotypic information: 46,XX,t(1;14)(p34.3;q22)(?0) (ECACC=92111314).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (ECACC=92111314).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Gly551Asp (c.1652G>A); ClinVar=VCV000007120; Zygosity=Heterozygous (ECACC=92111314).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   57Y2M
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 9
//