ID   3PNF_FiPSsv_PM_2
AC   CVCL_UN11
DR   Wikidata; Q93306446
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_FiPSsv_PM_2.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/ANEXO_3PNF_FiPSsv_PM_2.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; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_UN12 ! 3PNF_SiPSsv_MM_11
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 M., Mazuelas H., Richaud-Patin Y., Gel B., Terribas E., Rosas I.,
RA   Jimenez-Delgado S., Biayna J., Vendredy L., Blanco I., Castellanos E.,
RA   Lazaro C., Raya A., Serra E.;
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 M., Mazuelas H., Richaud-Patin Y., Gel B., Terribas E., Rosas I.,
RA   Jimenez-Delgado S., Biayna J., Vendredy L., Blanco I., Castellanos E.,
RA   Lazaro C., Raya A., Serra E.;
RT   "Erratum: Reprogramming captures the genetic and tumorigenic
RT   properties of neurofibromatosis type 1 plexiform neurofibromas.";
RL   Stem Cell Reports 12:639-641(2019).
//