ID   JUCTCi018-A
AC   CVCL_C0J5
SY   iPSC-MPV17-01-01
DR   BioSamples; SAMEA13882714
DR   hPSCreg; JUCTCi018-A
DR   Wikidata; Q112929914
RX   PubMed=39461114;
CC   From: Cell Therapy Center, University of Jordan; Amman; Jordan.
CC   Population: Jordanian.
CC   Sequence variation: Mutation; HGNC; HGNC:7224; MPV17; Simple; p.Arg41Gln (c.122G>A); ClinVar=VCV000626263; Zygosity=Homozygous (PubMed=39461114).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C212863; Charcot-Marie-Tooth disease type 2EE
DI   ORDO; Orphanet_91024; Autosomal recessive axonal hereditary motor and sensory neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C0J6 ! JUCTCi018-B
OI   CVCL_C0J7 ! JUCTCi018-C
SX   Female
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=39461114; DOI=10.1016/j.scr.2024.103602;
RA   Ababneh N.A., Barham R., Al-Kurdi B., Al Hadidi S.A., Ali D.,
RA   Abdulelah A.A., Madadha A., Masri A.T., Awidi A.;
RT   "Establishment of a human induced pluripotent stem cell (iPSC) line
RT   (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type
RT   2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in
RT   the MPV17 gene.";
RL   Stem Cell Res. 81:103602-103602(2024).
//