ID   WTSIi018-B-16
AC   CVCL_D6KU
SY   KOLF2-C1 ATM A3054V; PEIi019-A-16
DR   BioSamples; SAMEA115039275
DR   hPSCreg; WTSIi018-B-16
DR   Wikidata; Q127384720
RX   PubMed=37976651;
CC   From: Paul Ehrlich Institute; Langen; Germany.
CC   Population: Caucasian; British.
CC   Sequence variation: Mutation; HGNC; 18037; ARID2; Simple; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple_edited; p.Ala3054Val (c.9161C>T); ClinVar=VCV000479082; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=37976651).
CC   Sequence variation: Mutation; HGNC; 2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9S58 ! HPSI0114i-kolf_2-C1
SX   Male
AG   55-59Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=37976651; DOI=10.1016/j.scr.2023.103247;
RA   Nurieva W., Ivanova E., Chehab S., Singh P., Reichlmeir M., Szuhai K.,
RA   Auburger G.W.J., Skarnes W.C., Ivics Z.;
RT   "Generation of four gene-edited human induced pluripotent stem cell
RT   lines with mutations in the ATM gene to model
RT   ataxia-telangiectasia.";
RL   Stem Cell Res. 73:103247-103247(2023).
//