ID   JUCTCi017-C
AC   CVCL_A9AC
DR   hPSCreg; JUCTCi017-C
DR   Wikidata; Q108820574
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 (from autologous cell line JUCTCi017-A).
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_A9AA ! JUCTCi017-A
OI   CVCL_A9AB ! JUCTCi017-B
SX   Female
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 6
//