ID   RG-416
AC   CVCL_B778
SY   SI-416
DR   Wikidata; Q54950193
WW   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:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (ISCR=654).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; c.1585-1G>A (IVS10AS,G>A,-1) (1717-1G>A); ClinVar=VCV000007112; Zygosity=Heterozygous; Note=Splice acceptor mutation (ISCR=654).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 19-12-24; Version: 19
//