ID   RCMGi009-A
AC   CVCL_C9HC
SY   P14L1
DR   BioSamples; SAMEA112366029
DR   hPSCreg; RCMGi009-A
DR   Wikidata; Q123033338
RX   PubMed=37307755;
CC   From: Research Centre for Medical Genetics; Moscow; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Heterozygous (PubMed=37307755).
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   14Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37307755; DOI=10.1016/j.scr.2023.103133;
RA   Kondrateva E.V., Grigorieva O.V., Kurshakova E., Panchuk I.O.,
RA   Pozhitnova V.O., Voronina E.S., Tabakov V.Y., Orlova M.D., Lavrov A.V.,
RA   Smirnikhina S.A., Kutsev S.I.;
RT   "Generation of induced pluripotent stem cell line (RCMGi009-A) from
RT   urine cells of patient with fibrodysplasia ossificans progressiva.";
RL   Stem Cell Res. 70:103133-103133(2023).
//