Cellosaurus cell line HT707 TH-neo (CVCL

Cellosaurus HT707 TH-neo (CVCL_F0Y8)

Entry history
Cell line name	HT707 TH-neo
Accession	CVCL_F0Y8
Resource Identification Initiative	To cite this cell line use: HT707 TH-neo (RRID:CVCL_F0Y8)
Comments	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). Genetic integration: Method=CRISPR/Cas9; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Pro68Argfs*23 (c.203delC); ClinVar=VCV001321450; Zygosity=Heterozygous (PubMed=40568761). Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Arg296Ter (c.886C>T) (R247X); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=40568761). Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=40568761).
Disease	Gaucher disease (NCIt: C61268) Gaucher disease (ORDO: Orphanet_355)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_F0Y7 (HT707)
Sex of cell	Female
Age at sampling	60Y
Category	Induced pluripotent stem cell
Publications	PubMed=38529501; DOI=10.1101/2024.02.25.581985; PMCID=PMC10962709 Ellen Hertz, Gani Perez, Ying Hao, Krystyna Rytel, Charis Ma, Martha Kirby, Stacie M. Anderson, Stephen M. Wincovitch Sr., Katherine M. Andersh, Tim Ahfeldt, Joel W. Blanchard ...Show all 16 authors... , Yue Andy Qi, Grisel J. Lopez, Nahid Tayebi, Ellen Sidransky, Yu Chen; Show fewer authors Comparative study of enriched dopaminergic neurons from siblings with Gaucher disease discordant for parkinsonism. bioRxiv 2024:02.25.581985-02.25.581985(2024) PubMed=40568761; DOI=10.1002/mds.30273; PMCID=PMC12371625 Ellen Hertz, Krystyna Rytel, Gani Perez, Ying Hao, Zi-Yi Li, Charis Ma, Katherine M. Andersh, Yue Andy Qi, Emory E. Ryan, Grisel J. Lopez, Nahid Tayebi ...Show all 13 authors... , Ellen Sidransky, Yu Chen; Show fewer authors Evaluation of induced pluripotent stem cell-derived dopaminergic neurons from siblings with Gaucher disease discordant for parkinsonism. Mov. Disord. 40:1719-1724(2025)
Entry creation	27-Nov-2025
Last entry update	27-Nov-2025
Version number	1