ID   KIi001-A
AC   CVCL_UL54
SY   NB1-II
DR   BioSamples; SAMEA5070576
DR   hPSCreg; KIi001-A
DR   Wikidata; Q94339429
RX   PubMed=30605844;
CC   From: Karolinska Institutet; Stockholm; Sweden.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:427; ALK; Simple; p.Arg1275Gln (c.3824G>A); ClinVar=VCV000018083; Zygosity=Heterozygous; Note=Germline (PubMed=30605844).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C3270; Neuroblastoma
DI   ORDO; Orphanet_635; Neuroblastoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=30605844; DOI=10.1016/j.scr.2018.11.017;
RA   Marin Navarro A., Day K., Kogner P., Wilhelm M., Falk A.;
RT   "Generation of induced pluripotent stem cell lines from two
RT   neuroblastoma patients carrying a germline ALK R1275Q mutation.";
RL   Stem Cell Res. 34:101356-101356(2019).
//