ID   USCi003-A
AC   CVCL_UL41
SY   iBFLS1; 25B
DR   hPSCreg; USCi003-A
DR   Wikidata; Q98134363
CC   From: University of Southern California, Los Angeles; Los Angeles; USA.
CC   Sequence variation: Mutation; HGNC; 18145; PHF6; Simple; p.Cys45Tyr (c.134G>A); ClinVar=VCV000011066; Zygosity=Unspecified (hPSCreg=USCi003-A).
DI   NCIt; C157122; Mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type
DI   ORDO; Orphanet_127; Borjeson-Forssman-Lehmann syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 02-05-24; Version: 7
//