ID   LUMCi010-A
AC   CVCL_WR65
SY   LUMC0084iFOP; LUMC0084
DR   hPSCreg; LUMCi010-A
DR   Wikidata; Q95983460
RX   PubMed=31733439;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Heterozygous (PubMed=31733439).
CC   Derived from site: In situ; Tooth, periodontal ligament; UBERON=UBERON_0008266.
DI   NCIt; C3040; Fibrodysplasia ossificans progressiva
DI   ORDO; Orphanet_337; Fibrodysplasia ossificans progressiva
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   23Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=31733439; DOI=10.1016/j.scr.2019.101639;
RA   Sanchez-Duffhues, Gonzalo
RA   Mikkers, Harald M.M.
RA   de Jong, Danielle
RA   Szuhai, Karoly
RA   de Vries, Teun J.
RA   Freund, Christian M.A.H.
RA   Bravenboer, Nathalie
RA   van Es, Robert J.J.
RA   Netelenbos, Jan Coen
RA   Goumans, Marie-Jose
RA   Eekhoff, Elisabeth Marelise W.
RA   ten Dijke, Peter
RT   "Generation of fibrodysplasia ossificans progressiva and control
RT   integration free iPSC lines from periodontal ligament fibroblasts.";
RL   Stem Cell Res. 41:101639-101639(2019).
//