ID   CRTDi009-B
AC   CVCL_C1P6
DR   BioSamples; SAMEA13127435
DR   hPSCreg; CRTDi009-B
DR   Wikidata; Q114311275
CC   From: Center for Regenerative Therapies Dresden (CRTD); Dresden; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 15925; SAMHD1; Simple; p.His167Tyr (c.499C>T); Zygosity=Homozygous (from autologous cell line CRTDi009-A).
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_C1P5 ! CRTDi009-A
SX   Female
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
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