ID   PCD1
AC   CVCL_D3BE
SY   PCD1-6-Cr3
DR   Wikidata; Q127383027
WW   Provider; CReM; 756; https://stemcellbank.bu.edu/Catalog/Item/Details/756
CC   From: Center for Regenerative Medicine; Boston; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:2950; DNAH5; Simple; p.Trp4206Ter (c.12617G>A); ClinVar=VCV000557901; Zygosity=Homozygous (Boston University).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): Boston University
ST   Amelogenin: X
ST   CSF1PO: 10
ST   D13S317: 9,13
ST   D16S539: 11
ST   D18S51: 15,21
ST   D21S11: 30,32.2
ST   D3S1358: 16
ST   D5S818: 13
ST   D7S820: 10,11
ST   D8S1179: 14
ST   FGA: 21,23
ST   Penta D: 9,12
ST   Penta E: 11,15
ST   TH01: 8,9.3
ST   TPOX: 8
ST   vWA: 16
DI   NCIt; C172392; Primary ciliary dyskinesia 3
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: 10-04-25; Version: 5
//