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Cellosaurus JUCTCi018-B (CVCL_C0J6)

[Text version]
Cell line name JUCTCi018-B
Accession CVCL_C0J6
Resource Identification Initiative To cite this cell line use: JUCTCi018-B (RRID:CVCL_C0J6)
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 (from autologous cell line JUCTCi018-A).
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_C0J5 ! JUCTCi018-A
CVCL_C0J7 ! JUCTCi018-C
Sex of cell Female
Age at sampling 25Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; JUCTCi018-B
Encyclopedic resources Wikidata; Q112929915
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5