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Cellosaurus C2C12-R486W-Bmpr1b (CVCL_RQ04)

[Text version]
Cell line name C2C12-R486W-Bmpr1b
Accession CVCL_RQ04
Resource Identification Initiative To cite this cell line use: C2C12-R486W-Bmpr1b (RRID:CVCL_RQ04)
Comments Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:1077; BMPR1B (Note=With p.Arg486Trp).
Derived from site: In situ; Skeletal muscle; UBERON=UBERON_0001134.
Cell type: Myoblast; CL=CL_0000056.
Species of origin Mus musculus (Mouse) (NCBI Taxonomy: 10090)
Breed/subspecies: C3H.
Hierarchy Parent: CVCL_0188 (C2C12)
Sex of cell Female
Age at sampling 2M
Category Spontaneously immortalized cell line
Publications

PubMed=16957682; DOI=10.1038/sj.ejhg.5201708
Katarina Lehmann, Petra Seemann, Jan Boergermann, Gilles Morin, Silke Reif, Petra Knaus, Stefan Mundlos;
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
Eur. J. Hum. Genet. 14:1248-1254(2006)

Cross-references
Encyclopedic resources Wikidata; Q54808122
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10