Home  |  Contact

Cellosaurus JUCTCi017-A (CVCL_A9AA)

[Text version]

Cell line name JUCTCi017-A
Synonyms iPSC-SGCB-01-01
Accession CVCL_A9AA
Resource Identification Initiative To cite this cell line use: JUCTCi017-A (RRID:CVCL_A9AA)
Comments From: Cell Therapy Center, University of Jordan; Amman; Jordan.
Population: Jordanian.
Derived from sampling site: Forearm; skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 10806; SGCB; Simple; p.Leu287Serfs*14 (c.859delC); ClinVar=VCV000534946; Zygosity=Homozygous (PubMed=34087734).
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_A9AB ! JUCTCi017-B
CVCL_A9AC ! JUCTCi017-C
Sex of cell Female
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=34087734; DOI=10.1016/j.scr.2021.102358
Ababneh N.A., Barham R., Al-Kurdi B., Ali D., Sharar N., Al Hadidi S., Alatoom R.M., Zalloum S., Gharandouq M.H., Makahleh L., Alnsour L.N., Alshahwan H., El-Khateeb M., Awidi A.
Generation of an induced pluripotent stem cell (iPSC) line (JUCTCi017-A) from a patient with limb-girdle muscular dystrophy (LGMD) due to a homozygous p.Leu287Serfs14* mutation in the SGCB gene.
Stem Cell Res. 54:102358-102358(2021)

Cross-references
Cell line databases/resources hPSCreg; JUCTCi017-A
Encyclopedic resources Wikidata; Q108820572
Entry history
Entry creation23-Sep-2021
Last entry update17-Mar-2022
Version number3