Cellosaurus cell line JUCTCi017-A (CVCL

Cellosaurus JUCTCi017-A (CVCL_A9AA)

Cross-references
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 site: In situ; Forearm, skin; UBERON=UBERON_0003403. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 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 Nidaa Anwar Ababneh, Raghda Barham, Ban Al-Kurdi, Dema Ali, Nour Sharar, Sabal A. Al Hadidi, Renata M. Alatoom, Suzan Zalloum, Mohammad H. Gharandouq, Leen Makahleh, Leena N. Al Nsour ...Show all 14 authors... , Hebah Alshahwan, Mohammed El-Khateeb, Abdalla Awidi; Show fewer authors 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)
Cell line databases/resources	hPSCreg; JUCTCi017-A
Encyclopedic resources	Wikidata; Q108820572
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	7