ID   94P0496
AC   CVCL_B7IJ
DR   Wikidata; Q112927025
RX   PubMed=29445421;
CC   Population: Caucasian; Polish.
CC   Karyotypic information: Mosaic; 46,XY; 45,XY,der(6)(6pter->6q11.1::13q11->13q21.33::20q11.22->20qter),-13 (PubMed=29445421).
CC   Sequence variation: Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (PubMed=29445421).
CC   Omics: Genome sequenced.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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   Male
AG   9Y
CA   Finite cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
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RX   PubMed=29445421; DOI=10.1186/s13039-018-0364-6; PMCID=PMC5803995;
RA   Habib R., Neitzel H., Ernst A., Wong J.K.-L., Goryluk-Kozakiewicz B.,
RA   Gerlach A., Demuth I., Sperling K., Chrzanowska K.H.;
RT   "Evidence for a pre-malignant cell line in a skin biopsy from a
RT   patient with Nijmegen breakage syndrome.";
RL   Mol. Cytogenet. 11:17.1-17.9(2018).
//