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Cellosaurus GM04900 (CVCL_AA40)

[Text version]
Cell line name GM04900
Accession CVCL_AA40
Resource Identification Initiative To cite this cell line use: GM04900 (RRID:CVCL_AA40)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Homozygous; Note=Splice donor mutation (from autologous cell line GM04899).
Disease Familial dysautonomia (NCIt: C84706)
Familial dysautonomia (ORDO: Orphanet_1764)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_AA39 ! GM04899
Sex of cell Female
Age at sampling 12Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM04900
Cell line databases/resources CLO; CLO_0025598
Encyclopedic resources Wikidata; Q54838750
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13