Generation of a human induced pluripotent stem cell line (PHAi003) from a primary immunodeficient patient with CD70 mutation

• Published in: Stem cell research Vol. 41; p. 101612
• Main Authors: Arias-Fuenzalida, Jonathan, Yu, Jingwei, Abolhassani, Hassan, Du, Likun, Custodio, Joaquin, Pan-Hammarström, Qiang
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01-12-2019; Elsevier
• Subjects: Medicin och hälsovetenskap
• ISSN: 1873-5061; 1876-7753; 1876-7753
• DOI: 10.1016/j.scr.2019.101612

Primary immunodeficiency (PID) comprises a heterogeneous group of over 330 genetic disorders, caused mainly by single-gene mutations, such as CD70. We generated human induced pluripotent stem cell lines, PHAi003-A and PHAi003-B, from a PID patient carrying the homozygous frameshift CD70 mutation c.250delT. The CD70 c.250delT genotype results in a complete loss of expression variant. This patient is one of the five CD70 deficient individuals described to date, and presented hypogammaglobulinemia, EBV associated Hodgkin's lymphoma and susceptibility to other viral infections. The PHAi003-A and PHAi003-B lines are a unique resource for PID modeling and studying CD70-mediated immunity in human cells.