ID   WAe009-A-83
AC   CVCL_C0GL
SY   H9-FUS-Q290x; ZZUe010-A-83
DR   hPSCreg; WAe009-A-83
DR   Wikidata; Q112930551
RX   PubMed=35247836;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Sequence variation: Mutation; HGNC; 4010; FUS; Simple_edited; p.Gln290Ter (c.868C>T); ClinVar=VCV000037070; Zygosity=Heterozygous (PubMed=35247836).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C168750; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9773 ! WA09
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35247836; DOI=10.1016/j.scr.2022.102734;
RA   Zhang Y.-M., Zhu J., Dai Y.-Z., Wang L.-Z., Liu R., Guo X.;
RT   "Generation of a heterozygous FUS-Q290X knock in human embryonic stem
RT   cell line (WAe009-A-83) using CRISPR/Cas9 system.";
RL   Stem Cell Res. 60:102734-102734(2022).
//