ID   LBi010-B
AC   CVCL_C6R1
SY   iLB-282bfs283; PH-BL-403 Clone 283
DR   BioSamples; SAMEA111511692
DR   hPSCreg; LBi010-B
DR   Wikidata; Q117704613
CC   From: Life & Brain GmbH; Bonn; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1659; CD33; Simple; chr19:g.51224706C>A; dbSNP=rs3865444; Zygosity=Homozygous (hPSCreg=LBi010-B).
CC   Sequence variation: Mutation; HGNC; 1659; CD33; Simple; p.Ala14Val (c.41C>T) (chr19:g.51225221C>T); ClinVar=VCV001275129; Zygosity=Homozygous (hPSCreg=LBi010-B).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C6R0 ! LBi010-A
SX   Female
AG   55-59Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
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