Cellosaurus cell line JUCTCi018-A (CVCL

Cellosaurus JUCTCi018-A (CVCL_C0J5)

Cross-references
Cell line name	JUCTCi018-A
Synonyms	iPSC-MPV17-01-01
Accession	CVCL_C0J5
Resource Identification Initiative	To cite this cell line use: JUCTCi018-A (RRID:CVCL_C0J5)
Comments	From: Cell Therapy Center, University of Jordan; Amman; Jordan. Population: Jordanian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:7224; MPV17; Simple; p.Arg41Gln (c.122G>A); ClinVar=VCV000626263; Zygosity=Homozygous (PubMed=39461114).
Disease	Charcot-Marie-Tooth disease type 2EE (NCIt: C212863) Autosomal recessive axonal hereditary motor and sensory neuropathy (ORDO: Orphanet_91024)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_C0J6 ! JUCTCi018-B CVCL_C0J7 ! JUCTCi018-C
Sex of cell	Female
Age at sampling	25Y
Category	Induced pluripotent stem cell
Publications	PubMed=39461114; DOI=10.1016/j.scr.2024.103602 Ababneh N.A., Barham R., Al-Kurdi B., Al Hadidi S.A., Ali D., Abdulelah A.A., Madadha A., Masri A.T., Awidi A. Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene. Stem Cell Res. 81:103602-103602(2024)
Cell line databases/resources	hPSCreg; JUCTCi018-A
Biological sample resources	BioSamples; SAMEA13882714
Encyclopedic resources	Wikidata; Q112929914
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5