Cellosaurus cell line JUCTCi002-A (CVCL

Cellosaurus JUCTCi002-A (CVCL_A9I3)

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; 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 Nidaa Anwar Ababneh, Ban Al-Kurdi, Dema Ali, Duaa Abuarqoub, Raghda Barham, Abdulla M. Alzibdeh, Asim N. Khanfar, Ahmad M. Altantawi, Abdee Tawfiq Ryalat, Basil Sharrack, Abdalla Awidi; 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	19-Dec-2024
Version number	7