ID   ESi063-A
AC   CVCL_VP83
SY   ARS-FiPS4F1
DR   hPSCreg; ESi063-A
DR   Wikidata; Q93545354
RX   PubMed=30144656;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/173/Caracteristicas%20-%20Formulario%20de%20deposito%20ARS-FiPS4F1.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/173/Anexo%20-%20Anexo%20ARS-FiPS4F1-V2.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Principe Felipe Centro de Investigacion; Valencia; Spain.
CC   Sequence variation: Mutation; HGNC; 10519; SACS; Simple; p.Gln3313Glyfs*11 (c.9938delC); Zygosity=Heterozygous (PubMed=30144656).
CC   Sequence variation: Mutation; HGNC; 10519; SACS; Simple; p.Arg3792Ter (c.11374C>T); ClinVar=VCV000370283; Zygosity=Heterozygous (PubMed=30144656).
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: 11,13
ST   D13S317: 11,12
ST   D16S539: 11,13
ST   D21S11: 28,29
ST   D5S818: 11
ST   D7S820: 10,12
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 17,19
DI   NCIt; C154614; Autosomal recessive spastic ataxia of Charlevoix-Saguenay
DI   ORDO; Orphanet_98; Autosomal recessive spastic ataxia of Charlevoix-Saguenay
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 30-01-24; Version: 12
//
RX   PubMed=30144656; DOI=10.1016/j.scr.2018.07.012;
RA   Machuca-Arellano C., Vilches A., Clemente E., Pascual-Pascual S.I.,
RA   Bolinches-Amoros A., Castro A.A., Espinos C., Rodriguez M.L.,
RA   Jendelova P., Erceg S.;
RT   "Generation of a human iPSC line from a patient with autosomal
RT   recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by
RT   mutation in SACSIN gene.";
RL   Stem Cell Res. 31:249-252(2018).
//