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Cellosaurus BJTTHi003-A (CVCL_C9ME)

[Text version]
Cell line name BJTTHi003-A
Synonyms CARASIL WHN1C2
Accession CVCL_C9ME
Resource Identification Initiative To cite this cell line use: BJTTHi003-A (RRID:CVCL_C9ME)
Comments From: Beijing Tiantan Hospital; Beijing; China.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9476; HTRA1; Simple; p.Pro285Leu (c.854C>T); ClinVar=VCV000156100; Zygosity=Heterozygous (hPSCreg=BJTTHi003-A).
Disease Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (NCIt: C202018)
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy (ORDO: Orphanet_199354)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; BJTTHi003-A
Biological sample resources BioSamples; SAMEA113557091
Encyclopedic resources Wikidata; Q123030820
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3