ID   PN2-iPSC
AC   CVCL_A4VR
SY   PN2
DR   Wikidata; Q107116667
RX   PubMed=26987923;
CC   From: Children's Hospital of Philadelphia; Philadelphia; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:25792; USB1; Simple; c.693+1G>T; ClinVar=VCV000496749; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=26987923).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C177535; Poikiloderma with neutropenia
DI   ORDO; Orphanet_221046; Poikiloderma with neutropenia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4VQ ! PN1-iPSC
SX   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
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RX   PubMed=26987923; DOI=10.1016/j.scr.2015.10.006;
RA   Mills J.A., Hudock K.M., Sullivan S.K., Herrera P., Sullivan L.M.,
RA   Gadue P., French D.L.;
RT   "Generation of poikiloderma with neutropenia (PN) induced pluripotent
RT   stem cells (iPSCs).";
RL   Stem Cell Res. 15:595-597(2015).
//