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Cellosaurus CENSOi065-A (CVCL_D0MH)

[Text version]
Cell line name CENSOi065-A
Synonyms B245c3
Accession CVCL_D0MH
Resource Identification Initiative To cite this cell line use: CENSOi065-A (RRID:CVCL_D0MH)
Comments From: Axol Bioscience Ltd. (Censo Biotechnologies); Cambridge; United Kingdom.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:13356; MCOLN1; Simple; c.406-2A>G (IVS3AS-2A>G); ClinVar=VCV000005131; Zygosity=Heterozygous; Note=Splice acceptor mutation (from autologous cell line CENSOi065-B).
Disease Mucolipidosis type IV (NCIt: C84896)
Mucolipidosis type IV (ORDO: Orphanet_578)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D0MI ! CENSOi065-B
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; CENSOi065-A
Encyclopedic resources Wikidata; Q123030899
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3