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Cellosaurus (CVCL_E4IW)

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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_corrected; p.Val577Asp (c.1730T>A); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33813175).
Disease Intellectual developmental disorder, autosomal dominant 7 (NCIt: C179708)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A5EX (FDCHi005-A)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications


Sayaka Ohta, Cheng Chen, Madoka Iizumi, Takahiro Shiga, Rina Matsuoka, Takashi Anzai, Remi Hibiya-Motegi, Shori Tajima, Katsuhisa Ikeda, Wado Akamatsu, Kazusaku Kamiya;
Generation of two iPSC lines from siblings of a homozygous patient with hearing loss and a heterozygous carrier with normal hearing carrying p.G45E/Y136X mutation in GJB2.
Stem Cell Res. 53:102290-102290(2021)

Entry history
Entry creation20-May-2021
Last entry update27-Nov-2025
Version number7