ID   LVNC-FiPS-MIB1VF2
AC   CVCL_UN01
DR   Wikidata; Q95983556
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/85/Caracteristicas%20-%20Doc-deposito-LVNC-FiPS-MIB1VF2_v3.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/85/Anexo%20-%20Anexo_LVNC-FiPS-MIB1VF2_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.Val943Phe (c.2827G>T); ClinVar=VCV000040091; 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,Y
ST   CSF1PO: 11,12
ST   D13S317: 12,13
ST   D16S539: 12,13
ST   D21S11: 29,30
ST   D5S818: 11,13
ST   D7S820: 8,9
ST   TH01: 8,9.3
ST   TPOX: 8
ST   vWA: 14,16
DI   NCIt; C157266; Left ventricular noncompaction 7
DI   ORDO; Orphanet_54260; Left ventricular noncompaction
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 30-01-24; Version: 10
//