ID   HPS2301
AC   CVCL_C9WS
DR   RCB; HPS2301
DR   Wikidata; Q123032121
CC   Sequence variation: Mutation; HGNC; 2201; COL3A1; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2301).
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_C9WT ! HPS2302
OI   CVCL_C9WU ! HPS2303
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: 30-01-24; Version: 2
//