ID   vNBS8-iPS-c1
AC   CVCL_9U58
DR   Wikidata; Q54993297
RX   PubMed=26987925;
CC   From: Max Planck Institute for Molecular Genetics; Berlin; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Heterozygous (PubMed=26987925).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C4692; Nijmegen breakage syndrome
DI   ORDO; Orphanet_647; Nijmegen breakage syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_9U59 ! vNBS8-iPS-c2
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
//
RX   PubMed=26987925; DOI=10.1016/j.scr.2015.10.013;
RA   Mlody B., Adjaye J.;
RT   "Generation of iPSC lines from a Nijmegen breakage syndrome patient.";
RL   Stem Cell Res. 15:629-632(2015).
//