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Cellosaurus CENSOi066-A (CVCL_D0MJ)

[Text version]
Cell line name CENSOi066-A
Synonyms B242c7
Accession CVCL_D0MJ
Resource Identification Initiative To cite this cell line use: CENSOi066-A (RRID:CVCL_D0MJ)
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; p.Thr232Pro (c.694A>C); ClinVar=VCV000208021; Zygosity=Heterozygous (Axol).
  • Mutation; HGNC; HGNC:13356; MCOLN1; Simple; p.Phe262Ser (c.785T>C); ClinVar=VCV001028660; Zygosity=Heterozygous (Axol).
Disease Mucolipidosis type IV (NCIt: C84896)
Mucolipidosis type IV (ORDO: Orphanet_578)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Web pages https://axolbio.com/shop/disease-models/mucolipidosis-iv-ml4-censoi066-a/
Cross-references
Cell line databases/resources hPSCreg; CENSOi066-A
Encyclopedic resources Wikidata; Q123030901
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3