ID   CENSOi075-B
AC   CVCL_E4G2
CC   From: Axol Bioscience, Ltd (Censo Biotechnologies); Cambridge; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:17761; TREM2; Simple; p.Trp50Cys (c.150G>T); Zygosity=Homozygous (Axol).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C212884; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
DI   ORDO; Orphanet_2770; Nasu-Hakola disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   69Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 10-04-25; Version: 2
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