ID   BCRTi001-A
AC   CVCL_9S03
SY   P01-1
DR   BioSamples; SAMEA5889524
DR   hPSCreg; BCRTi001-A
DR   SKIP; SKIP002625
DR   Wikidata; Q54795712
RX   PubMed=27345784;
CC   From: Berlin-Brandenburg Center for Regenerative Therapies; Berlin; Germany.
CC   Sequence variation: Mutation; HGNC; 171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Heterozygous (PubMed=27345784).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C3040; Fibrodysplasia ossificans progressiva
DI   ORDO; Orphanet_337; Fibrodysplasia ossificans progressiva
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   45-49Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 13
//
RX   PubMed=27345784; DOI=10.1016/j.scr.2015.11.017;
RA   Hildebrand L., Rossbach B., Kuhnen P., Gossen M., Kurtz A., Reinke P.,
RA   Seemann P., Stachelscheid H.;
RT   "Generation of integration free induced pluripotent stem cells from
RT   fibrodysplasia ossificans progressiva (FOP) patients from urine
RT   samples.";
RL   Stem Cell Res. 16:54-58(2016).
//