Cellosaurus cell line JUCTCi019-A (CVCL

Cellosaurus JUCTCi019-A (CVCL_C0J2)

[Text version]

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

Mutation; HGNC; HGNC:16877; MFN2; Simple; p.Arg707Trp (c.2119C>T); ClinVar=VCV000002280; Zygosity=Heterozygous (PubMed=35468369).

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:

Amelogenin	X,Y
CSF1PO	11,12
D3S1358	15,17
D5S818	11,12
D7S820	10,11
D8S1179	13,15
D13S317	12,14
D16S539	9,10
D18S51	13
D21S11	30
FGA	24,25
Penta D	12,13
Penta E	7
TH01	9,9.3
TPOX	8
vWA	17

Publications

PubMed=35468369; DOI=10.1016/j.scr.2022.102786
Ababneh N.A., Barham R., Al-Kurdi B., Ali D., Al Hadidi S.A., Ismail M.A., Muamar A.S.H., Abdulelah A.A., Madadha A., Sallam M., Hassona Y., Masri A.T., Awidi A.
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 creation

23-Jun-2022

Last entry update

19-Dec-2024

Version number