ID   SZ-ALS3
AC   CVCL_YL01
SY   SZ-ALS3 PGD; ALS#3
DR   NIHhESC; NIHhESC-20-0484
DR   Wikidata; Q98132957
RX   PubMed=27773700;
WW   https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0484.
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=27773700).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex ambiguous
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=27773700; DOI=10.1016/j.stemcr.2016.09.011; PMCID=PMC5106522;
RA   Cohen-Hadad Y., Altarescu G., Eldar-Geva T., Levy-Lahad E., Zhang M.,
RA   Rogaeva E., Gotkine M., Bartok O., Ashwal-Fluss R., Kadener S.,
RA   Epsztejn-Litman S., Eiges R.;
RT   "Marked differences in C9orf72 methylation status and isoform
RT   expression between C9/ALS human embryonic and induced pluripotent stem
RT   cells.";
RL   Stem Cell Reports 7:927-940(2016).
//