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Cellosaurus FDCHi014-A (CVCL_D6HZ)

[Text version]
Cell line name FDCHi014-A
Synonyms iPSCx-y-NOVA2-m
Accession CVCL_D6HZ
Resource Identification Initiative To cite this cell line use: FDCHi014-A (RRID:CVCL_D6HZ)
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; 7887; NOVA2; Simple; p.Cys209Alafs*187 (c.625delT); Zygosity=Heterozygous (PubMed=38430735).
Disease Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NCIt: C205642)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y2M
Category Induced pluripotent stem cell
Publications

PubMed=38430735; DOI=10.1016/j.scr.2024.103369
Yin T.-T., Qian Y.-Y., Zhang X., Liao Y.-F., Wu B.-B., Wang S.-J., Wang H.-J.
Derivation of an induced pluripotent stem cell line (FDCHi014-A) from PBMCs of a seven-year-old patient with a truncating NOVA2 variant (c.625del).
Stem Cell Res. 76:103369-103369(2024)

Cross-references
Cell line databases/resources hPSCreg; FDCHi014-A
Biological sample resources BioSamples; SAMEA115062566
Encyclopedic resources Wikidata; Q127380845
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2