ID   LVNC-FiPS-MIB1STOP1
AC   CVCL_UN00
DR   Wikidata; Q95983554
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/84/Caracteristicas%20-%20Doc-deposito-LVNC-FiPS-MIB1STOP1_V3.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/84/Anexo%20-%20Anexo_LVNC-FiPS-MIB1STOP1_V3.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro Nacional de Investigaciones Cardiovasculares; Madrid; Spain.
CC   Sequence variation: Mutation; HGNC; 21086; MIB1; Simple; p.Arg530Ter (c.1588C>T); ClinVar=VCV000040092; Zygosity=Heterozygous (BNLC).
CC   Derived from site: In situ; Forearm, skin, dermis; UBERON=UBERON_0003399+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 9
ST   D13S317: 11,13
ST   D16S539: 9,12
ST   D21S11: 30.2,32.2
ST   D5S818: 10,13
ST   D7S820: 11
ST   TH01: 6,9.3
ST   TPOX: 8
ST   vWA: 14,15
DI   NCIt; C157266; Left ventricular noncompaction 7
DI   ORDO; Orphanet_54260; Left ventricular noncompaction
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 30-01-24; Version: 10
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