ID   GM27102
AC   CVCL_ZG15
SY   GM27102*B
DR   Coriell; GM27102
DR   Wikidata; Q98126382
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple_corrected; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous; Note=By CRISPR/Cas9 (Coriell=GM27102).
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_V210 ! GM01014
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 30-01-24; Version: 8
//