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Cellosaurus JUCTCi012-A (CVCL_A9XI)

[Text version]

Cell line name JUCTCi012-A
Accession CVCL_A9XI
Resource Identification Initiative To cite this cell line use: JUCTCi012-A (RRID:CVCL_A9XI)
Comments From: Cell Therapy Center, University of Jordan; Amman; Jordan.
Population: Jordanian.
Derived from sampling site: Skin.
Sequence variations Mutation; HGNC; 16877; MFN2; Simple; p.Arg707Trp (c.2119C>T); ClinVar=VCV000002280; Zygosity=Homozygous (PubMed=32916636).
Disease Cervical symmetrical lipomatosis (NCIt: C4392)
Multiple symmetric lipomatosis (ORDO: Orphanet_2398)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A9XJ ! JUCTCi012-B
CVCL_A9XK ! JUCTCi012-C
Sex of cell Female
Age at sampling 39Y
Category Induced pluripotent stem cell
Publications

PubMed=32916636; DOI=10.1016/j.scr.2020.101967
Ababneh N.A., Ali D., Barham R., Al-Kurdi B., Sharar N., Al Hadidi S., Qanno' O., Ryalat A.T., Salah B., Awidi A.
Establishment of a human induced pluripotent stem cell line, JUCTCi012-A, from multiple symmetric lipomatosis (MSL) patient carrying a homozygous Arg707Trp (c.2119C > T) mutation in the MFN2 gene.
Stem Cell Res. 48:101967-101967(2020)

Cross-references
Cell line databases/resources hPSCreg; JUCTCi012-A
Encyclopedic resources Wikidata; Q102114333
Entry history
Entry creation29-Oct-2020
Last entry update20-May-2021
Version number3