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Cellosaurus JUCTCi002-B (CVCL_A9I4)

[Text version]
Cell line name JUCTCi002-B
Accession CVCL_A9I4
Resource Identification Initiative To cite this cell line use: JUCTCi002-B (RRID:CVCL_A9I4)
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 (from autologous cell line JUCTCi002-A).
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_A9I3 ! JUCTCi002-A
CVCL_A9I5 ! JUCTCi002-C
Sex of cell Female
Age at sampling 27Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; JUCTCi002-B
Encyclopedic resources Wikidata; Q102114322
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number7