Cellosaurus cell line JUCTCi007-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; JUCTCi007-A SKIP; SKIP005863
Encyclopedic resources	Wikidata; Q102114324
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	7