CHOCi002-A因酸性麦芽糖酶缺乏引起的人类糖原累积病诱导多能干细胞BioVector NTCC®细胞保藏中心

[Designation名称] NTCC® CHOCi002-A Cell Line细胞株
BioVector NTCC典型培养物保藏中心

Cross-references: hPSCreg; CHOCi002-A
Cross-references: Wikidata; Q123030920
References identifiers: PubMed=37167752;
Comments: From: Children's Hospital of Orange County; Orange; USA.
Comments: Population: Caucasian.
Comments: Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (PubMed=37167752).
Comments: Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Tyr609Ter (c.1826dupA); ClinVar=VCV000189144; Zygosity=Heterozygous (PubMed=37167752).
Comments: Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Comments: Cell type: Fibroblast of skin; CL=CL_0002620.
Diseases:C84734; Glycogen storage disease type II
Diseases:Orphanet_365; Glycogen storage disease due to acid maltase deficiency
Species of origin:NCBI_TaxID=9606; ! Homo sapiens (Human)
[Organism物种来源]
[Disease疾病种类]
[编号]Accession: NTCC®- CVCL_C9Z8
[Comments描述]
[Reference参考文献]
[Category分类]
[Date保藏时间]
[Synonyms别名]
[Hierarchy]
培养方法：
Medium培养基：NTCC® CHOCi002-A 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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