ID   JUCTCi012-A
AC   CVCL_A9XI
DR   hPSCreg; JUCTCi012-A
DR   Wikidata; Q102114333
RX   PubMed=32916636;
CC   From: Cell Therapy Center, University of Jordan; Amman; Jordan.
CC   Population: Jordanian.
CC   Sequence variation: Mutation; HGNC; 16877; MFN2; Simple; p.Arg707Trp (c.2119C>T); ClinVar=VCV000002280; Zygosity=Homozygous (PubMed=32916636).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C4392; Cervical symmetrical lipomatosis
DI   ORDO; Orphanet_2398; Multiple symmetric lipomatosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A9XJ ! JUCTCi012-B
OI   CVCL_A9XK ! JUCTCi012-C
SX   Female
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32916636; DOI=10.1016/j.scr.2020.101967;
RA   Ababneh N.A., Ali D., Barham R., Al-Kurdi B., Sharar N., Al Hadidi S.,
RA   Qanno' O., Ryalat A.T., Salah B., Awidi A.;
RT   "Establishment of a human induced pluripotent stem cell line,
RT   JUCTCi012-A, from multiple symmetric lipomatosis (MSL) patient
RT   carrying a homozygous Arg707Trp (c.2119C > T) mutation in the MFN2
RT   gene.";
RL   Stem Cell Res. 48:101967-101967(2020).
//