ID   HHUUKDi006-A
AC   CVCL_UK17
SY   ISRM-NBS1
DR   hPSCreg; HHUUKDi006-A
DR   Wikidata; Q94207203
RX   PubMed=30616142;
CC   From: Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany.
CC   Sequence variation: Mutation; HGNC; 7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (PubMed=30616142).
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)
SX   Female
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 10
//
RX   PubMed=30616142; DOI=10.1016/j.scr.2018.101372;
RA   Martins S., Bohndorf M., Graffmann N., Wruck W., Chrzanowska K.H.,
RA   Adjaye J.;
RT   "Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an
RT   18-year-old Nijmegen breakage syndrome patient carrying the homozygous
RT   NBN c.657_661del5 mutation.";
RL   Stem Cell Res. 34:101372-101372(2019).
//