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Cellosaurus FDCHi005-A (CVCL_A5EX)

[Text version]
Cell line name FDCHi005-A
Synonyms iPSCx-y-DYRK1A-m
Accession CVCL_A5EX
Resource Identification Initiative To cite this cell line use: FDCHi005-A (RRID:CVCL_A5EX)
Comments From: Children's Hospital of Fudan University; Shanghai; China.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3091; DYRK1A; Simple; p.Val577Asp (c.1730T>A); Zygosity=Heterozygous (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 Children:
CVCL_A5EY (FDCHi005-B)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=33813175; DOI=10.1016/j.scr.2021.102305
Ling Ma, Zi-Yan Wu, Qing-Yuan Tang, Xiao-Li Ji, Yu-Ting Mei, Ting Peng, Qiong Xu, Wen-Hao Zhou, Man Xiong;
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-A
Encyclopedic resources Wikidata; Q107114958
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5