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Cellosaurus C2C12-R486Q-Bmpr1b (CVCL_RQ03)

[Text version]
Cell line name C2C12-R486Q-Bmpr1b
Accession CVCL_RQ03
Resource Identification Initiative To cite this cell line use: C2C12-R486Q-Bmpr1b (RRID:CVCL_RQ03)
Comments Transfected with: HGNC; 1077; BMPR1B (with p.Arg486Gln).
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

PubMed=16957682; DOI=10.1038/sj.ejhg.5201708
Lehmann K., Seemann P., Boergermann J., Morin G., Reif S., Knaus P., Mundlos S.
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)

Encyclopedic resources Wikidata; Q54808121
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number8