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Cellosaurus SDCHi003-A (CVCL_D6LG)

[Text version]
Cell line name SDCHi003-A
Synonyms NPRL2-ZHW5; ZHW5-IPS
Accession CVCL_D6LG
Resource Identification Initiative To cite this cell line use: SDCHi003-A (RRID:CVCL_D6LG)
Comments From: Children's Hospital Affiliated To Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 24969; NPRL2; Unexplicit; Partial deletion; Zygosity=Heterozygous (PubMed=38430737).
Disease Familial focal epilepsy with variable foci (ORDO: Orphanet_98820)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=38430737; DOI=10.1016/j.scr.2024.103366
Su S., Zhao F., Zhang H.-W., Liu Y., Li Z.-L., Zhang H., Wang Y.-P., Fang F., Liu Y.
Establishment of a transgene-free iPS cell line (SDCHi003-A) from a young patient bearing a NPRL2 mutation and suffering from epilepsy.
Stem Cell Res. 76:103366-103366(2024)

Cross-references
Cell line databases/resources hPSCreg; SDCHi003-A
Biological sample resources BioSamples; SAMEA115080427
Entry history
Entry creation02-May-2024
Last entry update02-May-2024
Version number1