MCRIi019-A-6由COL2A1基因突变引起的轻度脊椎骨骺发育不良伴早发性骨关节炎 诱导多能干细胞BioVector NTCC细胞保藏中心

[Designation名称] NTCC® MCRIi019-A-6 Cell Line细胞株
BioVector NTCC典型培养物保藏中心

Synonyms: 1502-COL2A1 p.R719C; 1502.3 COL2A1 p.R719C
Cross-references: hPSCreg; MCRIi019-A-6
Cross-references: Wikidata; Q123033010
References identifiers: PubMed=36682125;
Comments: From: Murdoch Children's Research Institute; Melbourne; Australia.
Comments: Population: African American.
Comments: Sequence variation: Mutation; HGNC; HGNC:2200; COL2A1; Simple_edited; p.Arg719Cys (c.2155C>T); ClinVar=VCV000017353; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36682125).
Comments: Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Comments: Cell type: Fibroblast of skin; CL=CL_0002620.
Diseases: C202115; Osteoarthritis with mild chondrodysplasia
Diseases: Orphanet_93279; Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Species of origin: NCBI_TaxID=9606; ! Homo sapiens (Human)
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[编号]Accession Number: NTCC® CVCL_D0HR
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培养方法：
Medium培养基：NTCC® MCRIi019-A-6 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
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