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Cellosaurus 7PNF_SiPSrv_PM_12 (CVCL_UN16)

[Text version]
Cell line name 7PNF_SiPSrv_PM_12
Accession CVCL_UN16
Resource Identification Initiative To cite this cell line use: 7PNF_SiPSrv_PM_12 (RRID:CVCL_UN16)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Institut d'Investigacio Germans Trias i Pujol (IGTP); Barcelona; Spain.
Omics: Genomics; Whole exome sequencing.
Derived from site: In situ; Peripheral nervous system, nerve; UBERON=UBERON_0001021.
Cell type: Schwann cell; CL=CL_0002573.
Sequence variations
  • Gene deletion; HGNC; HGNC:7765; NF1; Zygosity=Heterozygous; Note=Somatic LOH (PubMed=30713041).
  • Mutation; HGNC; HGNC:7765; NF1; Simple; p.Ile679Aspfs*20 (c.2034_2035insC) (c.2034_2035dupC); ClinVar=VCV001048682; Zygosity=Heterozygous; Note=Germline (PubMed=30713041).
Disease Neurofibromatosis type 1 (NCIt: C3273)
Neurofibromatosis type 1 (ORDO: Orphanet_636)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 66Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC; PubMed=30713041

Markers:
AmelogeninX
CSF1PO11,13
D2S133824
D3S135815,17
D5S81810,12
D7S8208,12
D8S117913,14
D13S3178,13
D16S53911,12
D18S5112,15
D19S43313,15
D21S1129,30
FGA20,25
TH016,9.3
TPOX10,11
vWA15,20

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Web pages Info; NTAP; -; https://www.n-tap.org/for-researchers/cell-model-systems
Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Solicitud%2520de%2520deposito%2520-%25207PNF_SiPSrv_PM_12.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo-7PNF_SiPSrv_PM_12.pdf
Publications

PubMed=30713041; DOI=10.1016/j.stemcr.2019.01.001; PMCID=PMC6373434
Meritxell Carrio, Helena Mazuelas, Yvonne Richaud-Patin, Bernat Gel, Ernest Terribas, Inma Rosas, Senda Jimenez-Delgado, Josep Biayna, Leen Vendredy, Ignacio Blanco, Elisabeth Castellanos ...Show all 14 authors... , Conxi Lazaro, Angel Raya, Eduard Serra; Show fewer authors
Reprogramming captures the genetic and tumorigenic properties of neurofibromatosis type 1 plexiform neurofibromas.
Stem Cell Reports 12:411-426(2019)

PubMed=30840859; DOI=10.1016/j.stemcr.2019.02.001; PMCID=PMC6410339
Meritxell Carrio, Helena Mazuelas, Yvonne Richaud-Patin, Bernat Gel, Ernest Terribas, Inma Rosas, Senda Jimenez-Delgado, Josep Biayna, Leen Vendredy, Ignacio Blanco, Elisabeth Castellanos ...Show all 14 authors... , Conxi Lazaro, Angel Raya, Eduard Serra; Show fewer authors
Erratum: Reprogramming captures the genetic and tumorigenic properties of neurofibromatosis type 1 plexiform neurofibromas.
Stem Cell Reports 12:639-641(2019)

Cross-references
Encyclopedic resources Wikidata; Q93310143
Entry history
Entry creation25-Feb-2019
Last entry update10-Apr-2025
Version number13