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Cellosaurus DPNJMUi003-A (CVCL_E3UE)

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Cell line name DPNJMUi003-A
Accession CVCL_E3UE
Resource Identification Initiative To cite this cell line use: DPNJMUi003-A (RRID:CVCL_E3UE)
Comments From: Children's Hospital of Nanjing Medical University; Nanjing; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7784; NFIA; Simple; chr1:g.61650967_61842967del; Zygosity=Heterozygous (PubMed=40266456).
Disease Brain malformations with or without urinary tract defects (NCIt: C217084)
1p31p32 microdeletion syndrome (ORDO: Orphanet_401986)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Induced pluripotent stem cell
Publications

PubMed=40266456; DOI=10.1007/s13577-025-01222-x
Ning Zhou, Sheng-Nan Zhang, Chun-Li Wang, Bi-Xia Zheng, Ai-Hua Zhang, Wei Zhou;
Generation of human induced pluripotent stem cell lines derived from a patient carrying an intragenic deletion in the NFIA gene.
Hum. Cell 38:95.1-95.7(2025)

Cross-references
Cell line databases/resources hPSCreg; DPNJMUi003-A
Entry history
Entry creation19-Dec-2024
Last entry update14-Aug-2025
Version number2