Cellosaurus cell line JUCTCi012-A (CVCL

Cross-references
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 site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
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)
Cell line databases/resources	hPSCreg; JUCTCi012-A
Encyclopedic resources	Wikidata; Q102114333
Entry history
Entry creation	29-Oct-2020
Last entry update	29-Jun-2023
Version number	6