RS1 fibroblast Finite cell line NTCC®细胞株/完全培养基-BioVector NTCC典型培养物保藏中心

[Designation名称] NTCC® RS1 fibroblast Cell Line细胞株
BioVector NTCC Inc.

Cross-references: Wikidata; Q105510778
References identifiers: PubMed=23805272;
Cross-references: GEO; GSM1057284
Comments: Population: Japanese.
Comments: Sequence variation: Mutation; HGNC; 6990; MECP2; Simple; p.Gly269Alafs*20 (c.806delG) (p.Gly281Alafs*20, c.842delG) (V288X); ClinVar=VCV000095202; Zygosity=Heterozygous; Note=De novo mutation (PubMed=23805272).
Comments: Omics: DNA methylation analysis.
Comments: Donor information: Established from monozygotic twin of RS2 fibroblast (Cellosaurus=NTCC_A3YX). The donor of RS1 suffers from typical Rett syndrome while the donor of RS2 suffers from an atypical form of Rett syndrome.
Comments: Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Comments: Cell type: Fibroblast of skin; CL=CL_0002620.
Diseases: NCIt; C75488; Rett syndrome
Diseases: ORDO; Orphanet_778; Rett syndrome
Species of origin: NCBI_TaxID=9606; ! Homo sapiens (Human)
Sex of cell: Female
[Organism物种来源]
[Disease疾病种类]
[Accession编号] NTCC® Accession: NTCC_A3YW
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[Reference参考文献]
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培养方法：
Medium培养基：NTCC® Specific 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
Website网址：www.biovector.net