Cellosaurus cell line UCLi005-A (CVCL

Cellosaurus UCLi005-A (CVCL_9S57)

Cross-references
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; United Kingdom. Derived from site: In situ; Skeletal muscle; UBERON=UBERON_0001134. Cell type: Myoblast; CL=CL_0000056.
Sequence variations	Mutation; HGNC; 10805; SGCA; Simple; p.Arg77Cys (c.229C>T); ClinVar=VCV000009437; Zygosity=Homozygous (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. 4:140ra89.1-140ra89.13(2012)
Cell line collections (Providers)	EBiSC; UCLi005-A ECACC; 66541068 - Discontinued
Cell line databases/resources	hPSCreg; UCLi005-A SKIP; SKIP002568
Biological sample resources	BioSamples; SAMEA4091959
Encyclopedic resources	Wikidata; Q54989673
Entry history
Entry creation	23-Feb-2016
Last entry update	30-Jan-2024
Version number	10