ID   C2C12-Bmpr1b
AC   CVCL_RQ02
DR   Wikidata; Q54808120
RX   PubMed=16957682;
RX   PubMed=19956691;
CC   Transfected with: HGNC; 1077; BMPR1B.
CC   Transfected with: UniProtKB; P42212; GFP (with p.Phe64Leu, p.Ser65Thr and p.His231Leu = EGFP).
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: 9
//
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).
//
RX   PubMed=19956691; DOI=10.1371/journal.pgen.1000747;
RA   Seemann P., Brehm A., Konig J., Reissner C., Stricker S., Kuss P.,
RA   Haupt J., Renninger S., Nickel J., Sebald W., Groppe J.C., Ploger F.,
RA   Pohl J., Schmidt-von Kegler M., Walther M., Gassner I., Rusu C.,
RA   Janecke A.R., Dathe K., Mundlos S.;
RT   "Mutations in GDF5 reveal a key residue mediating BMP inhibition by
RT   NOGGIN.";
RL   PLoS Genet. 5:E1000747-E1000747(2009).
//