ID   C2C12-R486Q-Bmpr1b
AC   CVCL_RQ03
DR   Wikidata; Q54808121
RX   PubMed=16957682;
CC   Transfected with: HGNC; 1077; BMPR1B (with p.Arg486Gln).
CC   Derived from site: In situ; Skeletal muscle; UBERON=UBERON_0001134.
CC   Cell type: Myoblast; CL=CL_0000056.
CC   Breed/subspecies: C3H.
OX   NCBI_TaxID=10090; ! Mus musculus (Mouse)
HI   CVCL_0188 ! C2C12
SX   Female
AG   2M
CA   Spontaneously immortalized cell line
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=16957682; DOI=10.1038/sj.ejhg.5201708;
RA   Lehmann K., Seemann P., Boergermann J., Morin G., Reif S., Knaus P.,
RA   Mundlos S.;
RT   "A novel R486Q mutation in BMPR1B resulting in either a brachydactyly
RT   type C/symphalangism-like phenotype or brachydactyly type A2.";
RL   Eur. J. Hum. Genet. 14:1248-1254(2006).
//