ID   CRTDi008-B
AC   CVCL_C4SC
SY   AGS5_R290H/Q548X
DR   BioSamples; SAMEA13127475
DR   hPSCreg; CRTDi008-B
DR   Wikidata; Q116048796
RX   PubMed=36115319;
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 (PubMed=36115319).
CC   Sequence variation: Mutation; HGNC; 15925; SAMHD1; Simple; p.Gln548Ter (c.1642C>T); ClinVar=VCV000004071; Zygosity=Heterozygous (PubMed=36115319).
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_C1P4 ! CRTDi008-A
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 29-06-23; Version: 3
//
RX   PubMed=36115319; DOI=10.1016/j.scr.2022.102912;
RA   Hanchen V., Kretschmer S., Wolf C., Engel K., Khattak S., Neumann K.,
RA   Lee-Kirsch M.A.;
RT   "Generation of induced pluripotent stem cell lines from three patients
RT   with Aicardi-Goutieres syndrome type 5 due to biallelic SAMDH1
RT   mutations.";
RL   Stem Cell Res. 64:102912-102912(2022).
//