ID   HPS2303
AC   CVCL_C9WU
DR   RCB; HPS2303
DR   Wikidata; Q123032123
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2303).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125699; Ehlers-Danlos syndrome, type IV
DI   ORDO; Orphanet_286; Vascular Ehlers-Danlos syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C9WS ! HPS2301
OI   CVCL_C9WT ! HPS2302
OI   CVCL_C9WV ! HPS2304
OI   CVCL_C9WW ! HPS2305
OI   CVCL_C9WX ! HPS2306
SX   Male
AG   40-49Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
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