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Cellosaurus NIDCRi001-A (CVCL_YC42)

[Text version]
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; 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

PubMed=32505898; DOI=10.1016/j.scr.2020.101823
Mui B.W.H., Arora D., Mallon B.S., Martinez A.F., Lee J.S., Muenke M., Kruszka P., Kidwai F.K., Robey P.G.
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 creation19-Dec-2019
Last entry update29-Jun-2023
Version number6