• Mutation; HGNC; HGNC:7527; MUTYH; Simple; p.Arg106Trp (c.316C>T) (p.Arg81Trp, c.241C>T); ClinVar=VCV000183896; Zygosity=Heterozygous; Note=Germline (PubMed=33830941).
  
• Mutation; HGNC; HGNC:11998; TP53; Simple; p.Glu287Ter (c.859G>T); Zygosity=Hemizygous (DOI=10.1530/endoabs.70.AEP83; PubMed=33830941).
  

DOI=10.1530/endoabs.70.AEP83
Laura-Sophie Landwehr, Schreiner Jochen, Sabine Herterich, Silke Appenzeller, Martin Fassnacht, Matthias Kroiss, Isabel Weigand;
JIL-O: establishment of a new steroidogenic human adrenocortical carcinoma cell line.
Endocr. Abstr. 70:AEP83-AEP83(2020)

PubMed=33830941; DOI=10.1530/EJE-20-1423
Laura-Sophie Landwehr, Jochen Schreiner, Silke Appenzeller, Stefan Kircher, Sabine Herterich, Silviu Sbiera, Martin Fassnacht, Matthias Kroiss, Isabel Weigand;
A novel patient-derived cell line of adrenocortical carcinoma shows a pathogenic role of germline MUTYH mutation and high tumour mutational burden.
Eur. J. Endocrinol. 184:823-835(2021)

PubMed=35764904; DOI=10.1007/s12020-022-03112-w; PMCID=PMC9385758
Sandra Sigala, Elisa Rossini, Andrea Abate, Mariangela Tamburello, Stefan Richard Bornstein, Constanze Hantel;
An update on adrenocortical cell lines of human origin.
Endocrine 77:432-437(2022)