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Cellosaurus GM28888 (CVCL_D6Z2)

[Text version]
Cell line name GM28888
Synonyms GM28888*B
Accession CVCL_D6Z2
Resource Identification Initiative To cite this cell line use: GM28888 (RRID:CVCL_D6Z2)
Comments Population: Caucasian and Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:19998; TNPO2; Simple; p.Asp156Asn (c.466G>A); ClinVar=VCV001299679; Zygosity=Heterozygous (Coriell=GM28888).
Disease Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (NCIt: C210890)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5M
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28888
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2