ID   CENSOi064-A
AC   CVCL_D0MG
SY   B244c5
DR   hPSCreg; CENSOi064-A
DR   Wikidata; Q123030898
WW   Provider; Axol; -; https://axolbio.com/shop/disease-models/mucolipidosis-iv-ml4-censoi064-a/
CC   From: Axol Bioscience, Ltd (Censo Biotechnologies); Cambridge; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:13356; MCOLN1; Simple; c.406-2A>G (IVS3AS-2A>G); ClinVar=VCV000005131; Zygosity=Homozygous; Note=Splice acceptor mutation (Axol).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84896; Mucolipidosis type IV
DI   ORDO; Orphanet_578; Mucolipidosis type IV
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-04-25; Version: 4
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