ID   JUCTCi002-C
AC   CVCL_A9I5
DR   hPSCreg; JUCTCi002-C
DR   Wikidata; Q102114323
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 (from autologous cell line JUCTCi002-A).
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_A9I3 ! JUCTCi002-A
OI   CVCL_A9I4 ! JUCTCi002-B
SX   Female
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 8
//