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Cellosaurus JUCTCi017-C (CVCL_A9AC)

[Text version]
Cell line name JUCTCi017-C
Accession CVCL_A9AC
Resource Identification Initiative To cite this cell line use: JUCTCi017-C (RRID:CVCL_A9AC)
Comments From: Cell Therapy Center, University of Jordan; Amman; Jordan.
Population: Jordanian.
Derived from site: In situ; Forearm, skin; UBERON=UBERON_0003399.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 10806; SGCB; Simple; p.Leu287Serfs*14 (c.859delC); ClinVar=VCV000534946; Zygosity=Homozygous (from autologous cell line JUCTCi017-A).
Disease Autosomal recessive limb-girdle muscular dystrophy-4 (NCIt: C180849)
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 (ORDO: Orphanet_119)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A9AA ! JUCTCi017-A
CVCL_A9AB ! JUCTCi017-B
Sex of cell Female
Age at sampling 7Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; JUCTCi017-C
Encyclopedic resources Wikidata; Q108820574
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number6