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; 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: 29-06-23; Version: 8
//
RX   PubMed=31733439; DOI=10.1016/j.scr.2019.101639;
RA   Sanchez-Duffhues G., Mikkers H.M.M., de Jong D., Szuhai K.,
RA   de Vries T.J., Freund C.M.A.H., Bravenboer N., van Es R.J.J.,
RA   Netelenbos J.C., Goumans M.-J., Eekhoff E.M.W., ten Dijke P.;
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).
//