• Mutation; HGNC; 4177; GBA1; Simple; p.Thr408Met (c.1223C>T) (T369M); ClinVar=VCV000093447; Zygosity=Heterozygous (from parent cell line).
  

PubMed=29631617; DOI=10.1186/s13023-018-0798-2; PMCID=PMC5891977
Sima N., Li R., Huang W., Xu M., Beers J.K., Zou J.-Z., Titus S.A., Ottinger E.A., Marugan J.J., Xie X., Zheng W.
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
Orphanet J. Rare Dis. 13:54.1-54.14(2018)

PubMed=30220252; DOI=10.1186/s13023-018-0886-3; PMCID=PMC6139903
Vu M., Li R., Baskfield A., Lu B., Farkhondeh A., Gorshkov K., Motabar O., Beers J.K., Chen G.-K., Zou J.-Z., Espejo-Mojica A.J., Rodriguez-Lopez A., Almeciga-Diaz C.J., Barrera L.A., Jiang X.-T., Ory D.S., Marugan J.J., Zheng W.
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.
Orphanet J. Rare Dis. 13:152.1-152.15(2018)

PubMed=33375166; DOI=10.3390/cells10010008; PMCID=PMC7822217
Cheng Y.-S., Yang S., Hong J.-J., Li R., Beers J.K., Zou J.-Z., Huang W.-W., Zheng W.
Modeling CNS involvement in Pompe disease using neural stem cells generated from patient-derived induced pluripotent stem cells.
Cells 10:8.1-8.14(2021)