ID   LBi006-A
AC   CVCL_C6QS
SY   iLB-269bms16; PH-BL-102 Clone 16
DR   BioSamples; SAMEA111511677
DR   hPSCreg; LBi006-A
DR   Wikidata; Q117704603
CC   From: Life & Brain GmbH; Bonn; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1659; CD33; Simple; p.Ala14Val (c.41C>T) (chr19:g.51225221C>T); ClinVar=VCV001275129; Zygosity=Homozygous (hPSCreg=LBi006-A).
CC   Sequence variation: Mutation; HGNC; HGNC:1659; CD33; Simple; chr19:g.51224706C>A; dbSNP=rs3865444; Zygosity=Homozygous (hPSCreg=LBi006-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C6QT ! LBi006-B
SX   Male
AG   75-79Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 10-04-25; Version: 4
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