ID   NIDCRi001-A
SY   MS-iPSC-1a
DR   BioSamples; SAMEA6185506
DR   hPSCreg; NIDCRi001-A
DR   Wikidata; Q98127823
RX   PubMed=32505898;
CC   From: National Institute of Dental and Craniofacial Research; Bethesda; USA.
CC   Sequence variation: Mutation; HGNC; 3690; FGFR3; Simple; p.Pro250Arg (c.749C>G); ClinVar=VCV000016340; Zygosity=Heterozygous (PubMed=32505898).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84904; Muenke syndrome
DI   ORDO; Orphanet_53271; Muenke syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 6
RX   PubMed=32505898; DOI=10.1016/j.scr.2020.101823;
RA   Mui B.W.H., Arora D., Mallon B.S., Martinez A.F., Lee J.S., Muenke M.,
RA   Kruszka P., Kidwai F.K., Robey P.G.;
RT   "Generation of human induced pluripotent stem cell line (NIDCRi001-A)
RT   from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation.";
RL   Stem Cell Res. 46:101823-101823(2020).