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Cellosaurus JUCTCi007-B (CVCL_ZZ63)

[Text version]
Cell line name JUCTCi007-B
Accession CVCL_ZZ63
Resource Identification Initiative To cite this cell line use: JUCTCi007-B (RRID:CVCL_ZZ63)
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; 1966; CHRNE; Simple; p.Arg331Trp (c.991C>T); ClinVar=VCV000018358; Zygosity=Homozygous (from autologous cell line JUCTCi007-A).
Disease Congenital myasthenic syndrome-4C (NCIt: C174216)
Congenital myasthenic syndrome (NCIt: C84647)
Congenital myasthenic syndrome (ORDO: Orphanet_590)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZZ62 ! JUCTCi007-A
CVCL_ZZ64 ! JUCTCi007-C
Sex of cell Female
Age at sampling 24Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; JUCTCi007-B
Encyclopedic resources Wikidata; Q102114327
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number7