ID   GNB1 FiPS1-Ep6F-1
AC   CVCL_E7SV
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+GNB1+FiPS1-Ep6F-1+Solicitud+de+dep%C3%B3sito.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/GNB1%2520FiPS1-Ep6F-1%2520Anexo.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:4396; GNB1; Simple; p.Ile80Thr (c.239T>C); ClinVar=VCV000208722; 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,Y
ST   CSF1PO: 10,11
ST   D13S317: 8,13
ST   D16S539: 11,13
ST   D21S11: 30
ST   D5S818: 10,11
ST   D7S820: 11
ST   TH01: 8,9.3
ST   TPOX: 8
ST   vWA: 18
DI   NCIt; C215154; Intellectual developmental disorder, autosomal dominant 42
DI   ORDO; Orphanet_488613; Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
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