Cellosaurus cell line JUCTCi002-A (CVCL

Cross-references
Cell line name	JUCTCi002-A
Synonyms	iPSC-APTX-02-01
Accession	CVCL_A9I3
Resource Identification Initiative	To cite this cell line use: JUCTCi002-A (RRID:CVCL_A9I3)
Comments	From: Cell Therapy Center, University of Jordan; Amman; Jordan. Population: Jordanian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 15984; APTX; Simple; p.Trp279Ter (c.837G>A); ClinVar=VCV000004431; Zygosity=Homozygous (PubMed=32769066).
Disease	Ataxia-oculomotor apraxia type 1 (NCIt: C173401) Ataxia-oculomotor apraxia type 1 (ORDO: Orphanet_1168)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A9I4 ! JUCTCi002-B CVCL_A9I5 ! JUCTCi002-C
Sex of cell	Female
Age at sampling	27Y
Category	Induced pluripotent stem cell
Publications	PubMed=32769066; DOI=10.1016/j.scr.2020.101925 Ababneh N.A., Al-Kurdi B., Ali D., Abuarqoub D., Barham R., Alzibdeh A.M., Khanfar A.N., Altantawi A.M., Ryalat A.T., Sharrack B., Awidi A. Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene. Stem Cell Res. 48:101925-101925(2020)
Cell line databases/resources	hPSCreg; JUCTCi002-A SKIP; SKIP005816
Encyclopedic resources	Wikidata; Q102114321
Entry history
Entry creation	29-Oct-2020
Last entry update	29-Jun-2023
Version number	6