ID   SYS FiPS68-mR6F-3
AC   CVCL_E7TF
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/879042/Documento_Deposito_Linea_iPSC-SYS+FiPS68+ANEXO.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/879042/Documento_Deposito_Linea_iPSC-SYS+FiPS68_signedSBSB_signed.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Departament de Genetica de la Facultat de Biologia de la Universidad de Barcelona; Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:6814; MAGEL2; Simple; p.Gln666Profs*47 (c.1996dupC); ClinVar=VCV000190122; Zygosity=Heterozygous (BNLC).
CC   Derived from site: In situ; Abdomen, skin; UBERON=UBERON_0001416.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C215157; Schaaf-Yang syndrome
DI   ORDO; Orphanet_398069; Schaaf-Yang syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//