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Cellosaurus HPS3087 (CVCL_C6D9)

Cell line name HPS3087
Accession CVCL_C6D9
Resource Identification Initiative To cite this cell line use: HPS3087 (RRID:CVCL_C6D9)
Comments Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6990; MECP2; Simple; p.Arg294Ter (c.880C>T) (p.Arg306Ter, c.916C>T); ClinVar=VCV000011819; Zygosity=Unspecified (RCB=HPS3087).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C6D6 ! HPS3084
CVCL_C6D7 ! HPS3085
CVCL_C6D8 ! HPS3086
CVCL_C6DA ! HPS3088
CVCL_C6DB ! HPS3089
Sex of cell Female
Age at sampling 30-39Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) RCB; HPS3087
Encyclopedic resources Wikidata; Q116049485
Entry history
Entry creation15-Dec-2022
Last entry update29-Jun-2023
Version number3