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Cellosaurus JUCTCi007-A (CVCL_ZZ62)

[Text version]
Cell line name JUCTCi007-A
Accession CVCL_ZZ62
Resource Identification Initiative To cite this cell line use: JUCTCi007-A (RRID:CVCL_ZZ62)
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 (PubMed=32645605).
Disease Congenital myasthenic syndrome-4C (NCIt: C174216)
Congenital myasthenic syndrome (ORDO: Orphanet_590)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZZ63 ! JUCTCi007-B
CVCL_ZZ64 ! JUCTCi007-C
Sex of cell Female
Age at sampling 24Y
Category Induced pluripotent stem cell
Publications

PubMed=32645605; DOI=10.1016/j.scr.2020.101906
Ababneh N.A., Al-Kurdi B., Ali D., Abuarqoub D., Barham R., Ryalat A.T., Awidi A.
Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene.
Stem Cell Res. 47:101906-101906(2020)

Cross-references
Cell line databases/resources hPSCreg; JUCTCi007-A
SKIP; SKIP005863
Encyclopedic resources Wikidata; Q102114324
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number6