ID   REGUi005-A
AC   CVCL_YM44
SY   RT iPSC; ROTHMUND THOMSON iPSC
DR   hPSCreg; REGUi005-A
DR   Wikidata; Q98128896
RX   CelloPub=CLPUB00552;
RX   PubMed=32416578;
CC   From: Institute for Regenerative Medecine and Biotherapy; Montpellier; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; p.Gln757Ter (c.2269C>T); ClinVar=VCV000006063; Zygosity=Homozygous (CelloPub=CLPUB00552; PubMed=32416578).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=32416578
ST   Amelogenin: X
ST   CSF1PO: 11,13
ST   D13S317: 11
ST   D16S539: 12,13
ST   D18S51: 12,14
ST   D21S11: 30
ST   D3S1358: 15,18
ST   D5S818: 12,13
ST   D7S820: 10
ST   D8S1179: 10,13
ST   FGA: 21,23
ST   Penta D: 11,12
ST   Penta E: 11,14
ST   TH01: 8,9
ST   TPOX: 8,11
ST   vWA: 16,19
DI   NCIt; C3335; Rothmund-Thomson syndrome
DI   ORDO; Orphanet_2909; Rothmund-Thomson syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
//
RX   CelloPub=CLPUB00552;
RA   Gatinois V.;
RT   "Pathologies of helicases and premature aging: study by derivation of
RT   induced pluripotent stem cells.";
RL   Thesis PhD (2017); Universite de Montpellier; Montpellier; France.
//
RX   PubMed=32416578; DOI=10.1016/j.scr.2020.101807;
RA   Gatinois V., Desprat R., Pichard L., Becker F., Goldenberg A.,
RA   Balguerie X., Pellestor F., Lemaitre J.-M.;
RT   "iPSC reprogramming of fibroblasts from a patient with a
RT   Rothmund-Thomson syndrome RTS.";
RL   Stem Cell Res. 45:101807-101807(2020).
//