ID   PCD3
AC   CVCL_D3BG
SY   PCD3-9
DR   Wikidata; Q127383029
WW   https://stemcellbank.bu.edu/Catalog/Item/Details/831
CC   From: Boston University School of Medicine; Boston; USA.
CC   Population: Latino or Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:40050; MCIDAS; Simple; p.Pro384His (c.1151C>A); ClinVar=VCV001502494; Zygosity=Unspecified (Boston University).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C202610; Primary ciliary dyskinesia 42
DI   ORDO; Orphanet_244; Primary ciliary dyskinesia
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
//