ID   CRTDi010-A
AC   CVCL_C1P7
DR   BioSamples; SAMEA13155327
DR   hPSCreg; CRTDi010-A
DR   Wikidata; Q114311276
CC   From: Center for Regenerative Therapies Dresden (CRTD); Dresden; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 15925; SAMHD1; Simple; p.Arg164Ter (c.490C>T); ClinVar=VCV000004069; Zygosity=Homozygous (from autologous cell line CRTDi010-B).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168564; Aicardi-Goutieres syndrome 5
DI   ORDO; Orphanet_51; Aicardi-Goutieres syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C4SB ! CRTDi010-B
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
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