ID   PCD2
AC   CVCL_D3BF
SY   PCD2-14-Cr2
DR   Wikidata; Q127383028
WW   https://stemcellbank.bu.edu/Catalog/Item/Details/752
CC   From: Boston University School of Medicine; Boston; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:2954; DNAI1; Simple; c.48+2dupT (IVS1+2_3insT); ClinVar=VCV000005604; Zygosity=Homozygous (Boston University).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C128117; Primary ciliary dyskinesia 1
DI   ORDO; Orphanet_98861; Primary ciliary dyskinesia, Kartagener type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//