ID   BJTTHi003-A
AC   CVCL_C9ME
SY   CARASIL WHN1C2
DR   BioSamples; SAMEA113557091
DR   hPSCreg; BJTTHi003-A
DR   Wikidata; Q123030820
CC   From: Beijing Tiantan Hospital; Beijing; China.
CC   Sequence variation: Mutation; HGNC; 9476; HTRA1; Simple; p.Pro285Leu (c.854C>T); ClinVar=VCV000156100; Zygosity=Heterozygous (hPSCreg=BJTTHi003-A).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C202018; Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
DI   ORDO; Orphanet_199354; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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