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; 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: 19-12-24; Version: 7
//
RX   PubMed=32769066; DOI=10.1016/j.scr.2020.101925;
RA   Ababneh, Nidaa Anwar
RA   Al-Kurdi, Ban
RA   Ali, Dema
RA   Abuarqoub, Duaa
RA   Barham, Raghda
RA   Alzibdeh, Abdulla M.
RA   Khanfar, Asim N.
RA   Altantawi, Ahmad M.
RA   Ryalat, Abdee Tawfiq
RA   Sharrack, Basil
RA   Awidi, Abdalla
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).
//