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Cellosaurus MK088 (CVCL_A8Y9)

[Text version]
Cell line name MK088
Synonyms GBA-PD 2 fibroblasts
Accession CVCL_A8Y9
Resource Identification Initiative To cite this cell line use: MK088 (RRID:CVCL_A8Y9)
Comments Omics: SNP array analysis.
Omics: Transcriptome analysis by microarray.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (from child cell line UOXFi003-A).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_EE31 (UOXFi003-A)CVCL_WG64 (UOXFi003-B)CVCL_EE32 (UOXFi003-C)
Sex of cell Male
Age at sampling 46Y
Category Finite cell line
Cross-references
Encyclopedic resources Wikidata; Q102114539
Gene expression databases GEO; GSM1291208
GEO; GSM2644506
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number8