Cellosaurus cell line NIDCRi001-A (CVCL

Cross-references
Cell line name	NIDCRi001-A
Synonyms	MS-iPSC-1a
Accession	CVCL_YC42
Resource Identification Initiative	To cite this cell line use: NIDCRi001-A (RRID:CVCL_YC42)
Comments	From: National Institute of Dental and Craniofacial Research; Bethesda; USA. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Pro250Arg (c.749C>G); ClinVar=VCV000016340; Zygosity=Heterozygous (PubMed=32505898).
Disease	Muenke syndrome (NCIt: C84904) Muenke syndrome (ORDO: Orphanet_53271)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3Y
Category	Induced pluripotent stem cell
Publications	PubMed=32505898; DOI=10.1016/j.scr.2020.101823; PMCID=PMC8447220 Byron W.H. Mui, Deepika Arora, Barbara S. Mallon, Ariel F. Martinez, Janice S. Lee, Maximilian Muenke, Paul Kruszka, Fahad K. Kidwai, Pamela Gehron Robey; Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation. Stem Cell Res. 46:101823-101823(2020)
Cell line databases/resources	hPSCreg; NIDCRi001-A
Biological sample resources	BioSamples; SAMEA6185506
Encyclopedic resources	Wikidata; Q98127823
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	7