Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22)

Oguz K. Ozgoren
Glen Lester Sequiera
Costanza Ferrari Bardile
Sophia C. Gjervan
Areesha Salman
Anna Lehman
Stuart E. Turvey
Colin J.D. Ross
Sylvia Stockler
Mahmoud A. Pouladi

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Publication date

September 2023

DOI

10.1016/j.scr.2023.103174

Publisher

Elsevier

Journal

Stem Cell Research

Abstract

Hypomyelinating Leukodystrophy 22 (HLD22) is caused by a stoploss mutation in CLDN11. To study the molecular mechanisms underlying HLD22, human induced pluripotent stem cells (hiPSCs) were generated from patient fibroblasts carrying the stop-loss mutation in CLDN11

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Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22)

Abstract

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Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22)

Abstract

Extracted data

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