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Cellosaurus 6PNF_SiPSrv_PM_2 (CVCL_UN15)

[Text version]
Cell line name 6PNF_SiPSrv_PM_2
Synonyms 6PNF SiPSrv_PM_2
Accession CVCL_UN15
Resource Identification Initiative To cite this cell line use: 6PNF_SiPSrv_PM_2 (RRID:CVCL_UN15)
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
  • Mutation; HGNC; HGNC:7765; NF1; Simple; p.Leu983Ter (c.2946delT); 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 33Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC; PubMed=30713041

Markers:
AmelogeninX
CSF1PO10,12
D2S133817,23
D3S135816,18
D5S81811,13
D7S82011
D8S117910,12
D13S31711,14
D16S5399,13
D18S5111,13
D19S43313,14
D21S1129,30.2
FGA21,27
TH017,9.3
TPOX9,11
vWA17

Run an STR similarity search on this cell line
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-6PNF_SiPSrv_PM_2.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo-%25206PNF_SiPSrv_PM_2.pdf
Publications

PubMed=30713041; DOI=10.1016/j.stemcr.2019.01.001; PMCID=PMC6373434
Carrio M., Mazuelas H., Richaud-Patin Y., Gel B., Terribas E., Rosas I., Jimenez-Delgado S., Biayna J., Vendredy L., Blanco I., Castellanos E., Lazaro C., Raya A., Serra E.
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
Carrio M., Mazuelas H., Richaud-Patin Y., Gel B., Terribas E., Rosas I., Jimenez-Delgado S., Biayna J., Vendredy L., Blanco I., Castellanos E., Lazaro C., Raya A., Serra E.
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; Q93309513
Entry history
Entry creation25-Feb-2019
Last entry update10-Apr-2025
Version number12