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Cellosaurus FDCHi005-B (CVCL_A5EY)

[Text version]
Cell line name FDCHi005-B
Synonyms iPSCx-y-DYRK1A-c
Accession CVCL_A5EY
Resource Identification Initiative To cite this cell line use: FDCHi005-B (RRID:CVCL_A5EY)
Comments From: Children's Hospital of Fudan University; Shanghai; China.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3091; DYRK1A; Simple_corrected; p.Val577Asp (c.1730T>A); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33813175).
Disease Mental retardation, autosomal dominant 7 (NCIt: C179708)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A5EX (FDCHi005-A)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=33813175; DOI=10.1016/j.scr.2021.102305
Ma L., Wu Z.-Y., Tang Q.-Y., Ji X.-L., Mei Y.-T., Peng T., Xu Q., Zhou W.-H., Xiong M.
Generation of an induced pluripotent stem cell line from a patient with global development delay carrying DYRK1A mutation (c.1730T>A) and a gene correction isogenic iPSC line.
Stem Cell Res. 53:102305-102305(2021)

Cross-references
Cell line databases/resources hPSCreg; FDCHi005-B
Encyclopedic resources Wikidata; Q107114960
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4