ID   UCLi005-A
AC   CVCL_9S57
SY   LGMD2D #4; LGMD2D Pt. 4; LGMD2D Pt.4
DR   BioSamples; SAMEA4091959
DR   EBiSC; UCLi005-A
DR   ECACC; 66541068
DR   hPSCreg; UCLi005-A
DR   SKIP; SKIP002568
DR   Wikidata; Q54989673
RX   PubMed=22745439;
CC   From: University College London; London; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 10805; SGCA; Simple; p.Arg77Cys (c.229C>T); ClinVar=VCV000009437; Zygosity=Homozygous (PubMed=22745439).
CC   Discontinued: ECACC; 66541068; true.
CC   Derived from site: In situ; Skeletal muscle; UBERON=UBERON_0001134.
CC   Cell type: Myoblast; CL=CL_0000056.
DI   NCIt; C142081; Limb-girdle muscular dystrophy type 2D
DI   ORDO; Orphanet_62; Autosomal recessive limb-girdle muscular dystrophy type 2D
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 10
//
RX   PubMed=22745439; DOI=10.1126/scitranslmed.3003541;
RA   Tedesco F.S., Gerli M.F.M., Perani L., Benedetti S., Ungaro F.,
RA   Cassano M., Antonini S., Tagliafico E., Artusi V., Longa E.,
RA   Tonlorenzi R., Ragazzi M., Calderazzi G., Hoshiya H., Cappellari O.,
RA   Mora M., Schoser B., Schneiderat P., Oshimura M., Bottinelli R.,
RA   Sampaolesi M., Torrente Y., Broccoli V., Cossu G.;
RT   "Transplantation of genetically corrected human iPSC-derived
RT   progenitors in mice with limb-girdle muscular dystrophy.";
RL   Sci. Transl. Med. 4:140ra89.1-140ra89.13(2012).
//