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Cellosaurus HPS3180 (CVCL_A3KF)

[Text version]
Cell line name HPS3180
Accession CVCL_A3KF
Resource Identification Initiative To cite this cell line use: HPS3180 (RRID:CVCL_A3KF)
Comments Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11444; STXBP1; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS3180).
Disease Developmental and epileptic encephalopathy 4 (NCIt: C162472)
Early infantile epileptic encephalopathy (ORDO: Orphanet_1934)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A3KE ! HPS3179
CVCL_A3KG ! HPS3181
CVCL_A3KH ! HPS3182
CVCL_A3KI ! HPS3183
CVCL_A3KJ ! HPS3184
Sex of cell Male
Age at sampling 6-9Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) RCB; HPS3180
Encyclopedic resources Wikidata; Q105509106
Entry history
Entry creation12-Jan-2021
Last entry update05-Oct-2023
Version number6