ID   RCMGi014-A
AC   CVCL_E4EM
SY   P20L7
DR   BioSamples; SAMEA114786333
DR   hPSCreg; RCMGi014-A
RX   DOI=10.1134/S1062360424700048;
CC   From: Research Centre for Medical Genetics; Moscow; Russia.
CC   Sequence variation: Mutation; HGNC; HGNC:171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Heterozygous (DOI=10.1134/S1062360424700048).
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   11Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   DOI=10.1134/S1062360424700048;
RA   Kondrateva E.V., Grigorieva O.V., Kurshakova E.V., Panchuk I.O.,
RA   Pozhitnova V.O., Voronina E.S., Tabakov V.Y., Nikishina I.P.,
RA   Arsenyeva S.V., Matkava V.G., Lavrov A.V., Smirnikhina S.A.,
RA   Kutsev S.I.;
RT   "Creation of induced pluripotent stem cells RCMGi014-A using
RT   reprogramming of urine cells of a patient with fibrodysplasia
RT   ossificans progressiva associated with heterozygous mutation in the
RT   ACVR1 gene.";
RL   Russ. J. Dev. Biol. 55:34-38(2024).
//