ID   CENSOi066-A
AC   CVCL_D0MJ
SY   B242c7
DR   hPSCreg; CENSOi066-A
DR   Wikidata; Q123030901
WW   Provider; Axol; -; https://axolbio.com/shop/disease-models/mucolipidosis-iv-ml4-censoi066-a/
CC   From: Axol Bioscience, Ltd (Censo Biotechnologies); Cambridge; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:13356; MCOLN1; Simple; p.Thr232Pro (c.694A>C); ClinVar=VCV000208021; Zygosity=Heterozygous (Axol).
CC   Sequence variation: Mutation; HGNC; HGNC:13356; MCOLN1; Simple; p.Phe262Ser (c.785T>C); ClinVar=VCV001028660; Zygosity=Heterozygous (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   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-04-25; Version: 4
//