ID   JUCTCi002-A
AC   CVCL_A9I3
SY   iPSC-APTX-02-01
DR   hPSCreg; JUCTCi002-A
DR   SKIP; SKIP005816
DR   Wikidata; Q102114321
RX   PubMed=32769066;
CC   From: Cell Therapy Center, University of Jordan; Amman; Jordan.
CC   Population: Jordanian.
CC   Sequence variation: Mutation; HGNC; 15984; APTX; Simple; p.Trp279Ter (c.837G>A); ClinVar=VCV000004431; Zygosity=Homozygous (PubMed=32769066).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173401; Ataxia-oculomotor apraxia type 1
DI   ORDO; Orphanet_1168; Ataxia-oculomotor apraxia type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A9I4 ! JUCTCi002-B
OI   CVCL_A9I5 ! JUCTCi002-C
SX   Female
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32769066; DOI=10.1016/j.scr.2020.101925;
RA   Ababneh N.A., Al-Kurdi B., Ali D., Abuarqoub D., Barham R.,
RA   Alzibdeh A.M., Khanfar A.N., Altantawi A.M., Ryalat A.T., Sharrack B.,
RA   Awidi A.;
RT   "Generation and characterization of induced pluripotent stem cell
RT   (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor
RT   apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX
RT   gene.";
RL   Stem Cell Res. 48:101925-101925(2020).
//