ID   CRTDi006-A
AC   CVCL_C1P2
SY   AGS1V201D_1
DR   BioSamples; SAMEA12596512
DR   hPSCreg; CRTDi006-A
DR   Wikidata; Q114311269
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.Val201Asp (c.602T>A); ClinVar=VCV000004182; 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: 11
ST   D13S317: 8,11
ST   D16S539: 14
ST   D18S51: 13
ST   D19S433: 16.2
ST   D21S11: 30
ST   D2S1338: 19,25
ST   D3S1358: 18
ST   D5S818: 12
ST   D7S820: 8,10
ST   D8S1179: 10,12
ST   FGA: 21,23
ST   TH01: 6,9.3
ST   TPOX: 8,12
ST   vWA: 18,19
DI   NCIt; C165501; Aicardi-Goutieres syndrome 1
DI   ORDO; Orphanet_51; Aicardi-Goutieres syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C1YD ! CRTDi006-B
SX   Male
AG   11Y
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).
//