ID   CRTDi007-B
AC   CVCL_C1YE
SY   AGS1R114H_2
DR   BioSamples; SAMEA12984492
DR   hPSCreg; CRTDi007-B
DR   Wikidata; Q114311272
RX   PubMed=36027857;
CC   From: Center for Regenerative Therapies Dresden (CRTD); Dresden; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12269; TREX1; Simple; p.Arg114His (c.341G>A); ClinVar=VCV000004179; Zygosity=Homozygous (PubMed=36027857).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=36027857
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D13S317: 11,12
ST   D16S539: 12
ST   D18S51: 12,18
ST   D19S433: 14
ST   D21S11: 30,30.2
ST   D2S1338: 19,23
ST   D3S1358: 14,15
ST   D5S818: 11,13
ST   D7S820: 7,8
ST   D8S1179: 12,16
ST   FGA: 19,23
ST   TH01: 9
ST   TPOX: 8
ST   vWA: 14,18
DI   NCIt; C165501; Aicardi-Goutieres syndrome 1
DI   ORDO; Orphanet_51; Aicardi-Goutieres syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C1P3 ! CRTDi007-A
SX   Male
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36027857; DOI=10.1016/j.scr.2022.102895;
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 two patients
RT   with Aicardi-Goutieres syndrome type 1 due to biallelic TREX1
RT   mutations.";
RL   Stem Cell Res. 64:102895-102895(2022).
//