ID   RG-326
AC   CVCL_B726
SY   SI-326
DR   Wikidata; Q54950125
WW   Info; NIHhESC; -; https://grants.nih.gov/stem_cells/registry/not_approved.htm
CC   From: Reproductive Genetics Institute; Chicago; USA.
CC   Registration: NIH Human Embryonic Stem Cell Registry; not approved.
CC   Sequence variation: Mutation; HGNC; HGNC:6121; IRF6; Simple; p.Arg84His (c.251G>A); ClinVar=VCV000003415; Zygosity=Unspecified (ISCR=638).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C118786; Autosomal dominant popliteal pterygium syndrome
DI   ORDO; Orphanet_1300; Autosomal dominant popliteal pterygium syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 10-04-25; Version: 20
//