ID   PWS UPD 1.2
AC   CVCL_ZJ75
SY   PWSUPD1.2; PWS maternal UniParental Disomy line 1.2
DR   Wikidata; Q98128732
RX   PubMed=29228278;
WW   Provider; FPWR; -; https://www.fpwr.org/hubfs/Research%20Docs/PWS%20UPD1.2%20Validation%20QC%20Package.pdf
WW   Provider; FPWR; -; https://www.fpwr.org/ipsc-biobank
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): FPWR
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 9,13
ST   D16S539: 10,12
ST   D5S818: 10,12
ST   D7S820: 8,9
ST   TH01: 8
ST   TPOX: 8,9
ST   vWA: 16,18
DI   NCIt; C75463; Prader-Willi syndrome
DI   ORDO; Orphanet_739; Prader-Willi syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 6
//
RX   PubMed=29228278; DOI=10.1093/hmg/ddx420;
RA   Langouet M., Glatt-Deeley H.R., Chung M.S., Dupont-Thibert C.M.,
RA   Mathieux E., Banda E.C., Stoddard C.E., Crandall L.J., Lalande M.E.;
RT   "Zinc finger protein 274 regulates imprinted expression of transcripts
RT   in Prader-Willi syndrome neurons.";
RL   Hum. Mol. Genet. 27:505-515(2018).
//