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Cellosaurus FDCHi012-A (CVCL_D6HX)

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Cell line name FDCHi012-A
Synonyms iPSCx-x-DYRK1A-m
Accession CVCL_D6HX
Resource Identification Initiative To cite this cell line use: FDCHi012-A (RRID:CVCL_D6HX)
Comments From: Children's Hospital of Fudan University; Shanghai; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3091; DYRK1A; Simple; p.Gly348Trp (c.1042G>T) (p.Gly339Trp, c.1015G>T); ClinVar=VCV000932454; Zygosity=Heterozygous (PubMed=38382213).
Disease Intellectual developmental disorder, autosomal dominant 7 (NCIt: C179708)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 2Y1M
Category Induced pluripotent stem cell
Publications

PubMed=38382213; DOI=10.1016/j.scr.2024.103345
Yan-Zhuang Ge, Yan Cheng, Ting-Ting Yin, Xing-Sheng Peng, Zhong-Meng Xiong, Bing-Bing Wu, Hui-Jun Wang, Man Xiong, Wen-Hao Zhou;
Generation of a human induced pluripotent stem cell line (FDCHi012-A) from a patient with DYRK1A-related intellectual disability syndrome carrying DYRK1A mutation (c.1024G > T).
Stem Cell Res. 76:103345-103345(2024)

Cross-references
Cell line databases/resources hPSCreg; FDCHi012-A
Biological sample resources BioSamples; SAMEA114604817
Encyclopedic resources Wikidata; Q127380843
Entry history
Entry creation02-May-2024
Last entry update27-Nov-2025
Version number4