[Designation名稱] NTCC? PKU_LCL_01565 Cell Line細胞株
BioVector NTCC Inc.

Synonyms細胞別名: Identifier: WIMRi002-A
Cross References:hPSCreg; WIMRi002-A
Accession:CVCL_D6RK
Cross References:BioSamples; SAMEA115160101
Reference Identifiers:PubMed=38552357;
Comments:From: Westmead Institute for Medical Research; Sydney; Australia.
Comments:Population: Caucasian.
Comments:Sequence variation: Mutation; HGNC; 2501; CTH; Simple; p.Thr67Ile (c.200C>T); ClinVar=VCV000002939; Zygosity=Homozygous (from parent cell line).
Comments:Sequence variation: Mutation; HGNC; 8582; PAH; Simple; p.Arg252Gln (c.755G>A); ClinVar=VCV000102824; Zygosity=Heterozygous (PubMed=38552357).
Comments:Sequence variation: Mutation; HGNC; 8582; PAH; Simple; c.1315+1G>A (IVS12+1G>A); ClinVar=VCV000000576; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=38552357).
Comments:Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Comments:Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Diseases:NCIt; C129070; Cystathioninuria
Diseases:NCIt; C81315; Phenylketonuria
Diseases:ORDO; Orphanet_212; Cystathioninuria
[Organism物種來源]
[Disease疾病種類]
[Accession編號] NTCC?-Accession:CVCL_D6RK
[Comments描述]
[Reference參考文獻]
[Category分類]
[Date保藏時間]
[Hierarchy]
培養方法：
Medium培養基：NTCC? PKU_LCL_01565 Complete Medium
Growth properties形態：o貼壁 o懸?。?br />Culture Condition培養條件：Temperature溫度: 37°C.
Atmosphere: 95% Air, 5% CO2

Supplier生產廠家: BioVector NTCC典型培養物保藏中心
Website網址：www.biovector.net