Cellosaurus cell line PN1-iPSC (CVCL

Cross-references
Cell line name	PN1-iPSC
Synonyms	PN1
Accession	CVCL_A4VQ
Resource Identification Initiative	To cite this cell line use: PN1-iPSC (RRID:CVCL_A4VQ)
Comments	From: Children's Hospital of Philadelphia; Philadelphia; USA. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:25792; USB1; Simple; c.693+1G>T; ClinVar=VCV000496749; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=26987923).
Disease	Poikiloderma with neutropenia (NCIt: C177535) Poikiloderma with neutropenia (ORDO: Orphanet_221046)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A4VR ! PN2-iPSC
Sex of cell	Female
Age at sampling	1Y
Category	Induced pluripotent stem cell
Publications	PubMed=26987923; DOI=10.1016/j.scr.2015.10.006 Jason A. Mills, Kristin Mara Hudock, Spencer K. Sullivan, Pamela Herrera, Lisa M. Sullivan, Paul Gadue, Deborah L. French; Generation of poikiloderma with neutropenia (PN) induced pluripotent stem cells (iPSCs). Stem Cell Res. 15:595-597(2015)
Encyclopedic resources	Wikidata; Q107116666
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5