ID   3PNF_SiPSsv_MM_11
AC   CVCL_UN12
DR   Wikidata; Q93306448
RX   PubMed=30713041;
RX   PubMed=30840859;
WW   Info; NTAP; -; https://www.n-tap.org/for-researchers/cell-model-systems
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento_Deposito_3PNF_SiPSsv_MM_11-v2.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/ANEXO_3PNF_SiPSsv_MM_11-v2.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Institut d'Investigacio Germans Trias i Pujol (IGTP); Barcelona; Spain.
CC   Sequence variation: Gene deletion; HGNC; HGNC:7765; NF1; Zygosity=Heterozygous; Note=Somatic LOH (PubMed=30713041).
CC   Sequence variation: Mutation; HGNC; HGNC:7765; NF1; Simple; p.Gln1315Ter (c.3943C>T); ClinVar=VCV000938573; Zygosity=Heterozygous; Note=Germline (PubMed=30713041).
CC   Omics: Genomics; Whole exome sequencing.
CC   Derived from site: In situ; Peripheral nervous system, nerve; UBERON=UBERON_0001021.
CC   Cell type: Schwann cell; CL=CL_0002573.
ST   Source(s): BNLC; PubMed=30713041
ST   Amelogenin: X
ST   CSF1PO: 11,14
ST   D13S317: 8,13
ST   D16S539: 9,12
ST   D18S51: 13,15
ST   D19S433: 12,14.2
ST   D21S11: 30,32.2
ST   D2S1338: 17,24
ST   D3S1358: 15,16
ST   D5S818: 10,11
ST   D7S820: 10
ST   D8S1179: 10,14
ST   FGA: 21,24
ST   TH01: 8,9.3
ST   TPOX: 8
ST   vWA: 16
DI   NCIt; C3273; Neurofibromatosis type 1
DI   ORDO; Orphanet_636; Neurofibromatosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UN11 ! 3PNF_FiPSsv_PM_2
SX   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 10-04-25; Version: 13
//
RX   PubMed=30713041; DOI=10.1016/j.stemcr.2019.01.001; PMCID=PMC6373434;
RA   Carrio, Meritxell
RA   Mazuelas, Helena
RA   Richaud-Patin, Yvonne
RA   Gel, Bernat
RA   Terribas, Ernest
RA   Rosas, Inma
RA   Jimenez-Delgado, Senda
RA   Biayna, Josep
RA   Vendredy, Leen
RA   Blanco, Ignacio
RA   Castellanos, Elisabeth
RA   Lazaro, Conxi
RA   Raya, Angel
RA   Serra, Eduard
RT   "Reprogramming captures the genetic and tumorigenic properties of
RT   neurofibromatosis type 1 plexiform neurofibromas.";
RL   Stem Cell Reports 12:411-426(2019).
//
RX   PubMed=30840859; DOI=10.1016/j.stemcr.2019.02.001; PMCID=PMC6410339;
RA   Carrio, Meritxell
RA   Mazuelas, Helena
RA   Richaud-Patin, Yvonne
RA   Gel, Bernat
RA   Terribas, Ernest
RA   Rosas, Inma
RA   Jimenez-Delgado, Senda
RA   Biayna, Josep
RA   Vendredy, Leen
RA   Blanco, Ignacio
RA   Castellanos, Elisabeth
RA   Lazaro, Conxi
RA   Raya, Angel
RA   Serra, Eduard
RT   "Erratum to 'Reprogramming captures the genetic and tumorigenic
RT   properties of neurofibromatosis type 1 plexiform neurofibromas'.";
RL   Stem Cell Reports 12:639-641(2019).
//