HT708 TH-neo,人遗传性晚发性帕金森病诱导多能干细胞BioVector NTCC细胞保藏中心

[Designation名称] NTCC® HT708 TH-neo, Cell Line细胞株
BioVector NTCC典型培养物保藏中心

References identifiers: PubMed=38529501;
References identifiers: PubMed=40568761;
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).
Comments: Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Pro68Argfs*23 (c.203delC); ClinVar=VCV001321450; Zygosity=Heterozygous (PubMed=40568761).
Comments: Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Arg296Ter (c.886C>T) (R247X); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=40568761).
Comments: Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=40568761).
Comments: Genetic integration: Method=CRISPR/Cas9; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo.
Comments: Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Comments: Cell type: Fibroblast of skin; CL=CL_0002620.
Diseases: C61268; Gaucher disease
Diseases: C26845; Parkinson disease
Diseases: Orphanet_355; Gaucher disease
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[编号]Accession Number: NTCC® CVCL_F0YA
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培养方法：
Medium培养基：NTCC® HT708 TH-neo, Complete Medium
Growth properties形态：贴壁/悬浮：
Culture Condition培养条件：Temperature温度: 37°C.
Atmosphere: 95% Air, 5% CO2

Supplier生产厂家: BioVector NTCC质粒载体菌种细胞蛋白抗体基因保藏中心
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