ID   CENSOi065-A
AC   CVCL_D0MH
SY   B245c3
DR   hPSCreg; CENSOi065-A
DR   Wikidata; Q123030899
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=Heterozygous; Note=Splice acceptor mutation (from autologous cell line CENSOi065-B).
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)
OI   CVCL_D0MI ! CENSOi065-B
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-04-25; Version: 4
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