GM29345人莱氏综合征伴脑白质营养不良有限细胞株BioVector NTCC细胞保藏中心

[Designation名称] NTCC® GM29345 Cell Line细胞株
BioVector NTCC典型培养物保藏中心

Cross-references: Coriell; GM29345
Comments: Population: Caucasian.
Comments: Sequence variation: Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Ala173Val (c.518C>T); ClinVar=VCV000377257; Zygosity=Heterozygous (Coriell=GM29345).
Comments: Sequence variation: Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Gly175Ser (c.523G>A); ClinVar=VCV001300726; Zygosity=Heterozygous (Coriell=GM29345).
Comments: Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Comments: Cell type: Fibroblast of skin; CL=CL_0002620.
Diseases: C174218; Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency
Diseases: Orphanet_255241; Leigh syndrome with leukodystrophy
Species of origin: NCBI_TaxID=9606; ! Homo sapiens (Human)
Sex of cell: Female
Age of donor at sampling: 10Y
Category: Finite cell line
[Organism物种来源]
[Disease疾病种类]
[编号]Accession Number: NTCC® CVCL_F0YZ
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[Reference参考文献]
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[Date保藏时间]
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培养方法：
Medium培养基：NTCC® GM29345 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

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