Cellosaurus logo
expasy logo

Cellosaurus ESi134-A (CVCL_E3V4)

[Text version]
Cell line name ESi134-A
Synonyms SYS FiPS63-mR6F-1
Accession CVCL_E3V4
Resource Identification Initiative To cite this cell line use: ESi134-A (RRID:CVCL_E3V4)
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; Abdomen, skin; UBERON=UBERON_0001416.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6814; MAGEL2; Simple; p.Gln638Ter (c.1912C>T); ClinVar=VCV000208684; 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 20Y
Category Induced pluripotent stem cell
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/879042/Documento_Deposito_Linea_iPSC-SYS+FiPS63+ANEXO.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/879042/Documento_Deposito_Linea_iPSC-SYS+FiPS63_signedSBSB_signed.pdf
Cross-references
Cell line databases/resources hPSCreg; ESi134-A
Entry history
Entry creation19-Dec-2024
Last entry update10-Apr-2025
Version number2