ID   7PNF_SiPSrv_PM_12
AC   CVCL_UN16
DR   Wikidata; Q93310143
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/117/Caracteristicas%20-%20Solicitud%20de%20deposito%20-%207PNF_SiPSrv_PM_12.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/117/Anexo%20-%20Anexo-7PNF_SiPSrv_PM_12.pdf
WW   http://www.n-tap.org/plexiform-neurofibromas/cell-lines/
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: Mutation; HGNC; 7765; NF1; Simple; p.Ile679Aspfs*20 (c.2034_2035insC) (c.2034_2035dupC); ClinVar=VCV001048682; Zygosity=Unspecified (BNLC).
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
ST   Amelogenin: X
ST   CSF1PO: 11,13
ST   D13S317: 8,13
ST   D16S539: 11,12
ST   D18S51: 12,15
ST   D19S433: 13,15
ST   D21S11: 29,30
ST   D2S1338: 24
ST   D3S1358: 15,17
ST   D5S818: 10,12
ST   D7S820: 8,12
ST   D8S1179: 13,14
ST   FGA: 20,25
ST   TH01: 6,9.3
ST   TPOX: 10,11
ST   vWA: 15,20
DI   NCIt; C3273; Neurofibromatosis type 1
DI   ORDO; Orphanet_636; Neurofibromatosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   66Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 30-01-24; Version: 11
//