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Article

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

Stem cell research - 1 Dec 2019

Arias-Fuenzalida Jonathan, Yu Jingwei, Abolhassani Hassan, Du Likun, Custodio Joaquin, Pan-Hammarström Qiang

Abstract excerpt

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...

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PMID: 31678777
DOI: 10.1016/j.scr.2019.101612

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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