ID   CRTDi008-A
AC   CVCL_C1P4
DR   BioSamples; SAMEA13127436
DR   hPSCreg; CRTDi008-A
DR   Wikidata; Q114311273
CC   From: Center for Regenerative Therapies Dresden (CRTD); Dresden; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 15925; SAMHD1; Simple; p.Arg290His (c.869G>A); ClinVar=VCV002501214; Zygosity=Heterozygous (from autologous cell line CRTDi008-B).
CC   Sequence variation: Mutation; HGNC; 15925; SAMHD1; Simple; p.Gln548Ter (c.1642C>T); ClinVar=VCV000004071; Zygosity=Heterozygous (from autologous cell line CRTDi008-B).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168564; Aicardi-Goutieres syndrome 5
DI   ORDO; Orphanet_51; Aicardi-Goutieres syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C4SC ! CRTDi008-B
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
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