ID   WFS1 FiPS 34-Ep6F-3
AC   CVCL_E7TL
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/0/Anexo_dep%C3%B3sito_WFS1+FiPS34-Ep6F-3+%281%29.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento_Deposito_WFS1+FiPS+34-Ep6F-3+%281%29.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Universidad Autonoma de Barcelona; Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Val491_Pro492insLeuIleThrVal (c.1463_1474dupTCATCACCGTGC); Zygosity=Unspecified (BNLC).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 13
ST   D16S539: 9,12
ST   D18S51: 14,16
ST   D19S433: 12,14
ST   D21S11: 32.2
ST   D2S1338: 19,23
ST   D3S1358: 16,17
ST   D5S818: 11,12
ST   D7S820: 9,11
ST   D8S1179: 10,12
ST   FGA: 22.2,23
ST   TH01: 6,9.3
ST   TPOX: 9,11
ST   vWA: 15,18
DI   NCIt; C35133; Wolfram syndrome
DI   ORDO; Orphanet_3463; Wolfram syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_E7TM ! WFS1 FiPS 34-Ep6F-13
SX   Female
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//