ID   ESi064-A
AC   CVCL_UG20
SY   CARS-FiPS4F1
DR   hPSCreg; ESi064-A
DR   Wikidata; Q93545359
RX   PubMed=30384130;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Formulario%2520de%2520deposito%2520CARS-FiPS4F1.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexos%2520CARS-FiPS4F1.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; HGNC:10519; SACS; Simple; p.Arg3792Ter (c.11374C>T); ClinVar=VCV000370283; Zygosity=Heterozygous (PubMed=30384130).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 10-04-25; Version: 11
//
RX   PubMed=30384130; DOI=10.1016/j.scr.2018.10.016;
RA   Machuca-Arellano C., Vilches A., Clemente E., Pascual-Pascual S.I.,
RA   Bolinches-Amoros A., Artero Castro A., Espinos C., Leon M.,
RA   Jendelova P., Erceg S.;
RT   "Generation of human induced pluripotent stem cell (iPSC) line from an
RT   unaffected female carrier of mutation in SACSIN gene.";
RL   Stem Cell Res. 33:166-170(2018).
//