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Cellosaurus JUCTCi019-A (CVCL_C0J2)

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Cell line name JUCTCi019-A
Synonyms iPSC-MFN2-02-01
Accession CVCL_C0J2
Resource Identification Initiative To cite this cell line use: JUCTCi019-A (RRID:CVCL_C0J2)
Comments From: Cell Therapy Center, University of Jordan; Amman; Jordan.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
Disease Charcot-Marie-Tooth disease type 2A2A (NCIt: C150646)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (ORDO: Orphanet_99947)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C0J3 ! JUCTCi019-B
CVCL_C0J4 ! JUCTCi019-C
Sex of cell Male
Age at sampling 50Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=35468369

Markers:
AmelogeninX,Y
CSF1PO11,12
D3S135815,17
D5S81811,12
D7S82010,11
D8S117913,15
D13S31712,14
D16S5399,10
D18S5113
D21S1130
FGA24,25
Penta D12,13
Penta E7
TH019,9.3
TPOX8
vWA17

Run an STR similarity search on this cell line
Publications

PubMed=35468369; DOI=10.1016/j.scr.2022.102786
Nidaa Anwar Ababneh, Raghda Barham, Ban Al-Kurdi, Dema Ali, Sabal A. Al Hadidi, Mohamed A. Ismail, Ahmed S.H. Muamar, Ahmed A. Abdulelah, Adan Madadha, Malik Sallam, Yazan Hassona ...Show all 13 authors... , Amira Taher Masri, Abdalla Awidi; Show fewer authors
Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene.
Stem Cell Res. 62:102786-102786(2022)

Cross-references
Cell line databases/resources hPSCreg; JUCTCi019-A
Biological sample resources BioSamples; SAMEA13882919
Encyclopedic resources Wikidata; Q112929917
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5