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; 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: 19-12-24; Version: 14
//
RX   PubMed=27345784; DOI=10.1016/j.scr.2015.11.017;
RA   Hildebrand, Laura
RA   Rossbach, Bella
RA   Kuhnen, Peter
RA   Gossen, Manfred
RA   Kurtz, Andreas
RA   Reinke, Petra
RA   Seemann, Petra
RA   Stachelscheid, Harald
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).
//