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Cellosaurus GM27177 (CVCL_VH45)

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Cell line name GM27177
Synonyms GM27177*B
Accession CVCL_VH45
Resource Identification Initiative To cite this cell line use: GM27177 (RRID:CVCL_VH45)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2073; TPP1; Simple; c.509-1G>A (IVS5-1G>A); ClinVar=VCV000207574; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM27177).
  • Mutation; HGNC; HGNC:2073; TPP1; Simple; c.509-1G>C (IVS5-1G>C); ClinVar=VCV000002644; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM27177).
Disease Neuronal ceroid lipofuscinosis type 2 (NCIt: C85864)
CLN2 disease (ORDO: Orphanet_228349)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_DA97 (GM20385)
Sex of cell Female
Age at sampling 11Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27177
Encyclopedic resources Wikidata; Q54854148
Entry history
Entry creation14-May-2018
Last entry update31-Mar-2026
Version number14