ID   GNB1 FiPS3-Ep6F-2
AC   CVCL_E7SX
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+GNB1+FiPS3-Ep6F-2+Solicitud+de+dep%C3%B3sito.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo+-+GNB1+FiPS3-Ep6F-2+Anexo.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.Leu95Pro (c.284T>C); ClinVar=VCV000224716; 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: 10,11
ST   D13S317: 11
ST   D16S539: 11,12
ST   D21S11: 28,29
ST   D5S818: 9,11
ST   D7S820: 10,12
ST   TH01: 6,10
ST   TPOX: 9,11
ST   vWA: 16,17
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   Female
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
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