ID   ATCC-DYP0250
AC   CVCL_C250
DR   ATCC; ACS-1004
DR   SKIP; SKIP001307
DR   SKIP; SKIP003553
DR   Wikidata; Q54751090
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (ATCC=ACS-1004).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_2381 ! CCD-186Sk
SX   Male
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 22-10-12; Last updated: 05-10-23; Version: 17
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