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Cellosaurus SHCDNi005-A (CVCL_A7IQ)

[Text version]
Cell line name SHCDNi005-A
Synonyms SHCDN005
Accession CVCL_A7IQ
Resource Identification Initiative To cite this cell line use: SHCDNi005-A (RRID:CVCL_A7IQ)
Comments From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:18060; ARX; Simple; p.Gln503Alafs*28 (c.1507_1508del); Zygosity=Hemizygous (PubMed=34968892).
Disease Developmental and epileptic encephalopathy 1 (NCIt: C179866)
Early infantile epileptic encephalopathy (ORDO: Orphanet_1934)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6M
Category Induced pluripotent stem cell
Publications

PubMed=34968892; DOI=10.1016/j.scr.2021.102621
Wang C.-M., Wang Y.-L., Xu W.-H., Lin X.-F., Xi J.-M., Wang S.-M., Lin L.-L., Yuan F., Wang A.-Q., Wang C., Luo X.-N., Xu Q.-M., Yin R.-R., Zhang Y.-F., Huang X.-Y., Chen Y.-C.
Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene.
Stem Cell Res. 59:102621-102621(2022)

Cross-references
Cell line databases/resources hPSCreg; SHCDNi005-A
Encyclopedic resources Wikidata; Q107116920
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6