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Cellosaurus UCLi005-A (CVCL_9S57)

[Text version]

Cell line name UCLi005-A
Synonyms LGMD2D #4; LGMD2D Pt. 4; LGMD2D Pt.4
Accession CVCL_9S57
Resource Identification Initiative To cite this cell line use: UCLi005-A (RRID:CVCL_9S57)
Comments From: University College London; London; UK.
Derived from sampling site: Skeletal muscle; myoblast.
Sequence variations Homozygous for SGCA p.Arg77Cys (c.229C>T) (ClinVar=VCV000009437) (PubMed=22745439).
Disease Limb-girdle muscular dystrophy type 2D (NCIt: C142081)
Autosomal recessive limb-girdle muscular dystrophy type 2D (ORDO: Orphanet_62)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=22745439; DOI=10.1126/scitranslmed.3003541
Tedesco F.S., Gerli M.F.M., Perani L., Benedetti S., Ungaro F., Cassano M., Antonini S., Tagliafico E., Artusi V., Longa E., Tonlorenzi R., Ragazzi M., Calderazzi G., Hoshiya H., Cappellari O., Mora M., Schoser B., Schneiderat P., Oshimura M., Bottinelli R., Sampaolesi M., Torrente Y., Broccoli V., Cossu G.
Transplantation of genetically corrected human iPSC-derived progenitors in mice with limb-girdle muscular dystrophy.
Sci. Transl. Med. 4:140ra89-140ra89(2012)

Cross-references
Cell line collections ECACC; 66541068
Cell line databases/resources hPSCreg; UCLi005-A
SKIP; SKIP002568
Biological sample resources BioSamples; SAMEA4091959
Other Wikidata; Q54989673
Entry history
Entry creation23-Feb-2016
Last entry update29-Oct-2020
Version number5