ID   JCF-4
AC   CVCL_E7AX
RX   DOI=10.1016/j.gendis.2024.101506;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Val470Glufs*54 (c.1409_1418del); ClinVar=VCV000053250; Zygosity=Homozygous (DOI=10.1016/j.gendis.2024.101506).
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_J695 ! CF1TKB
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   DOI=10.1016/j.gendis.2024.101506;
RA   Okumura H., Hayashi M., Yamashita H., Hattori F.;
RT   "Establishment and characterization of an induced pluripotent stem
RT   cell line from a Japanese cystic fibrosis patient with homozygous
RT   1540del10 CFTR mutation.";
RL   Genes Dis. 0:0-0(2025).
//