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Cellosaurus 3PNF_FiPSsv_PM_2 (CVCL_UN11)

[Text version]
Cell line name 3PNF_FiPSsv_PM_2
Accession CVCL_UN11
Resource Identification Initiative To cite this cell line use: 3PNF_FiPSsv_PM_2 (RRID:CVCL_UN11)
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; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Gene deletion; HGNC; HGNC:7765; NF1; Zygosity=Heterozygous; Note=Somatic LOH (PubMed=30713041).
  • Mutation; HGNC; HGNC:7765; NF1; Simple; p.Gln1315Ter (c.3943C>T); ClinVar=VCV000938573; 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)
Originate from same individual CVCL_UN12 ! 3PNF_SiPSsv_MM_11
Sex of cell Female
Age at sampling 8Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC; PubMed=30713041

Markers:
AmelogeninX
CSF1PO11,14
D2S133817,24
D3S135815,16
D5S81810,11
D7S82010
D8S117910,14
D13S3178,13
D16S5399,12
D18S5113,15
D19S43312,14.2
D21S1130,32.2
FGA21,24
TH018,9.3
TPOX8
vWA16

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/Documento_Deposito_3PNF_FiPSsv_PM_2.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/ANEXO_3PNF_FiPSsv_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; Q93306446
Entry history
Entry creation25-Feb-2019
Last entry update10-Apr-2025
Version number13