GM29212人常染色体显性中心核肌病诱导多能干细胞BioVector NTCC细胞保藏中心

[Designation名称] NTCC® GM29212 Cell Line细胞株
BioVector NTCC典型培养物保藏中心

Synonyms: GM29212*B
Cross-references: Coriell; GM29212
Comments: Population: Korean.
Comments: Sequence variation: Mutation; HGNC; HGNC:7577; MYH7; Simple; c.3337-4dupC (c.3337-3dupC); ClinVar=VCV000042956; Zygosity=Heterozygous (Coriell=GM29212).
Comments: Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Gly334Val (c.1001G>T); ClinVar=VCV000159825; Zygosity=Heterozygous (Coriell=GM29212).
Comments: Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; c.1186_1187delinsTC; Zygosity=Heterozygous (Coriell=GM29212).
Comments: Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Pro2496Arg (c.7487C>G); ClinVar=VCV000159859; Zygosity=Heterozygous (Coriell=GM29212).
Comments: Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple; p.Arg3113His (c.9338G>A); ClinVar=VCV000130688; Zygosity=Heterozygous (Coriell=GM29212).
Comments: Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Comments: Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Diseases: C126689; Centronuclear myopathy 1
Diseases: Orphanet_169189; Autosomal dominant centronuclear myopathy
[Organism物种来源]
[Disease疾病种类]
[编号]Accession Number: NTCC® CVCL_F0YM
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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® GM29212 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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