ID   JUCTCi017-A
AC   CVCL_A9AA
SY   iPSC-SGCB-01-01
DR   hPSCreg; JUCTCi017-A
DR   Wikidata; Q108820572
RX   PubMed=34087734;
CC   From: Cell Therapy Center, University of Jordan; Amman; Jordan.
CC   Population: Jordanian.
CC   Sequence variation: Mutation; HGNC; 10806; SGCB; Simple; p.Leu287Serfs*14 (c.859delC); ClinVar=VCV000534946; Zygosity=Homozygous (PubMed=34087734).
CC   Derived from site: In situ; Forearm, skin; UBERON=UBERON_0003399.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C180849; Autosomal recessive limb-girdle muscular dystrophy-4
DI   ORDO; Orphanet_119; Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A9AB ! JUCTCi017-B
OI   CVCL_A9AC ! JUCTCi017-C
SX   Female
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34087734; DOI=10.1016/j.scr.2021.102358;
RA   Ababneh N.A., Barham R., Al-Kurdi B., Ali D., Sharar N., Al Hadidi S.,
RA   Alatoom R.M., Zalloum S., Gharandouq M.H., Makahleh L., Alnsour L.N.,
RA   Alshahwan H., El-Khateeb M., Awidi A.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line
RT   (JUCTCi017-A) from a patient with limb-girdle muscular dystrophy
RT   (LGMD) due to a homozygous p.Leu287Serfs14* mutation in the SGCB
RT   gene.";
RL   Stem Cell Res. 54:102358-102358(2021).
//