ID   JUCTCi019-A
AC   CVCL_C0J2
SY   iPSC-MFN2-02-01
DR   BioSamples; SAMEA13882919
DR   hPSCreg; JUCTCi019-A
DR   Wikidata; Q112929917
RX   PubMed=35468369;
CC   From: Cell Therapy Center, University of Jordan; Amman; Jordan.
CC   Sequence variation: Mutation; HGNC; HGNC:16877; MFN2; Simple; p.Arg707Trp (c.2119C>T); ClinVar=VCV000002280; Zygosity=Heterozygous (PubMed=35468369).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=35468369
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 12,14
ST   D16S539: 9,10
ST   D18S51: 13
ST   D21S11: 30
ST   D3S1358: 15,17
ST   D5S818: 11,12
ST   D7S820: 10,11
ST   D8S1179: 13,15
ST   FGA: 24,25
ST   Penta D: 12,13
ST   Penta E: 7
ST   TH01: 9,9.3
ST   TPOX: 8
ST   vWA: 17
DI   NCIt; C150646; Charcot-Marie-Tooth disease type 2A2A
DI   ORDO; Orphanet_99947; Autosomal dominant Charcot-Marie-Tooth disease type 2A2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C0J3 ! JUCTCi019-B
OI   CVCL_C0J4 ! JUCTCi019-C
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35468369; DOI=10.1016/j.scr.2022.102786;
RA   Ababneh N.A., Barham R., Al-Kurdi B., Ali D., Al Hadidi S.A.,
RA   Ismail M.A., Muamar A.S.H., Abdulelah A.A., Madadha A., Sallam M.,
RA   Hassona Y., Masri A.T., Awidi A.;
RT   "Generation of a human induced pluripotent stem cell (iPSC) line
RT   (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2
RT   (CMT2A2) due to a heterozygous missense substitution c.2119C > T
RT   (p.Arg707Trp) in MFN2 gene.";
RL   Stem Cell Res. 62:102786-102786(2022).
//