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Cellosaurus JUCTCi002-A (CVCL_A9I3)

[Text version]
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
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)

Cross-references
Cell line databases/resources hPSCreg; JUCTCi002-A
SKIP; SKIP005816
Encyclopedic resources Wikidata; Q102114321
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number6