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; 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 Francesco Saverio Tedesco, Mattia Francesco Maria Gerli, Laura Perani, Sara Benedetti, Federica Ungaro, Marco Cassano, Stefania Antonini, Enrico Tagliafico, Valentina Artusi, Emanuela Longa, Rossana Tonlorenzi ...Show all 24 authors... , Martina Ragazzi, Giorgia Calderazzi, Hidetoshi Hoshiya, Ornella Cappellari, Marina Mora, Benedikt Schoser, Peter Schneiderat, Mitsuo Oshimura, Roberto Bottinelli, Maurilio Sampaolesi, Yvan Torrente, Vania Broccoli, Giulio Cossu; Show fewer authors 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	19-Dec-2024
Version number	11