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Cellosaurus (CVCL_J049)

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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 Mus musculus (Mouse) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 33Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC; PubMed=30713041

Markers:

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Web pages 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
Entry history
Entry creation25-Feb-2019
Last entry update10-Apr-2025
Version number12