ID   NIDCRi001-A
AC   CVCL_YC42
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; 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: 19-12-24; Version: 7
//
RX   PubMed=32505898; DOI=10.1016/j.scr.2020.101823; PMCID=PMC8447220;
RA   Mui, Byron W.H.
RA   Arora, Deepika
RA   Mallon, Barbara S.
RA   Martinez, Ariel F.
RA   Lee, Janice S.
RA   Muenke, Maximilian
RA   Kruszka, Paul
RA   Kidwai, Fahad K.
RA   Robey, Pamela Gehron
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).
//