ID   HT708 TH-neo,
AC   CVCL_F0YA
RX   PubMed=38529501;
RX   PubMed=40568761;
CC   Characteristics: Using CRISPR/Cas9 a neo gene was inserted into the TH locus after exon 14 following a T2A self-cleavage peptide, placing its expression under the control of the TH promoter. This allows for TH+ DA neuron enrichment through geneticin selection (PubMed=38529501).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Pro68Argfs*23 (c.203delC); ClinVar=VCV001321450; Zygosity=Heterozygous (PubMed=40568761).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Arg296Ter (c.886C>T) (R247X); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=40568761).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=40568761).
CC   Genetic integration: Method=CRISPR/Cas9; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61268; Gaucher disease
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_355; Gaucher disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F0Y9 ! HT708
SX   Female
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//
RX   PubMed=38529501; DOI=10.1101/2024.02.25.581985; PMCID=PMC10962709;
RA   Hertz, Ellen
RA   Perez, Gani
RA   Hao, Ying
RA   Rytel, Krystyna
RA   Ma, Charis
RA   Kirby, Martha
RA   Anderson, Stacie M.
RA   Wincovitch, Stephen M. Sr.
RA   Andersh, Katherine M.
RA   Ahfeldt, Tim
RA   Blanchard, Joel W.
RA   Qi, Yue Andy
RA   Lopez, Grisel J.
RA   Tayebi, Nahid
RA   Sidransky, Ellen
RA   Chen, Yu
RT   "Comparative study of enriched dopaminergic neurons from siblings with
RT   Gaucher disease discordant for parkinsonism.";
RL   bioRxiv 2024:02.25.581985-02.25.581985(2024).
//
RX   PubMed=40568761; DOI=10.1002/mds.30273; PMCID=PMC12371625;
RA   Hertz, Ellen
RA   Rytel, Krystyna
RA   Perez, Gani
RA   Hao, Ying
RA   Li, Zi-Yi
RA   Ma, Charis
RA   Andersh, Katherine M.
RA   Qi, Yue Andy
RA   Ryan, Emory E.
RA   Lopez, Grisel J.
RA   Tayebi, Nahid
RA   Sidransky, Ellen
RA   Chen, Yu
RT   "Evaluation of induced pluripotent stem cell-derived dopaminergic
RT   neurons from siblings with Gaucher disease discordant for
RT   parkinsonism.";
RL   Mov. Disord. 40:1719-1724(2025).
//