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Cellosaurus SYS FiPS132-mR6F-4 (CVCL_E7TH)

[Text version]
Cell line name SYS FiPS132-mR6F-4
Accession CVCL_E7TH
Resource Identification Initiative To cite this cell line use: SYS FiPS132-mR6F-4 (RRID:CVCL_E7TH)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Departament de Genetica de la Facultat de Biologia de la Universidad de Barcelona; Barcelona; Spain.
Derived from site: In situ; Forearm, skin; UBERON=UBERON_0003403.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6814; MAGEL2; Simple; p.Gln1007Ter (c.3019C>T); Zygosity=Heterozygous (BNLC).
Disease Schaaf-Yang syndrome (NCIt: C215157)
Schaaf-Yang syndrome (ORDO: Orphanet_398069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 13Y
Category Induced pluripotent stem cell
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/879042/Documento_Deposito_Linea_iPSC-SYS+FiPS132_ANEXO.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/879042/Documento_Deposito_Linea_iPSC-SYS+FiPS132_signedSBSB_signed.pdf
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1