Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA).

Stem cell research - 1 May 2021

Qian Rengchen, Wang Long, Chen Huihui, Ding Yinjuan, Wang Dexuan, Chen Congde, Chu Maoping, Shan Xiaoou, Guo Xiaoling

Abstract excerpt

Lowe Syndrome (LS) is a rare X-linked multisystemic disorder syndrome, which can be caused by the gene mutations of OCRL. In present study, the urine cells (UCs) derived from a 12-year-old male LS patient with the hemizygote OCRL gene mutation p.M876N (c.2626dupA) were reprogrammed into induced pluripotent stem cells (iPSCs) named WMUi031-A through the commercial Sendai virus reprogramming kit. The pluripotent...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Differentiation
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Induced Pluripotent Stem Cells

Share to Mutation

Share to Oculocerebrorenal Syndrome

Share to Phosphoric Monoester Hydrolases

Share to Sendai virus

Source

Identifiers

PMID: 33765594
DOI: 10.1016/j.scr.2021.102294

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA).PMID 33765594Read ↗

Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome.Semantic proximity Read ↗

Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene.Semantic proximity Read ↗

Generation of a human induced pluripotent stem cell line (WMUi021-A) from a Gitelman syndrome patient carrying a SLC12A3 gene mutation (c.179C > T).Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line from a Bartter syndrome patient with the homozygote mutation p.A244D (c.731C>A) in SLC12A1 gene.Semantic proximity Read ↗

Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 gene.Semantic proximity Read ↗

Generation of an urine-derived induced pluripotent stem cell line WMUi017-A from a X-linked Renpenning syndrome (X-RSY) patient with the hemizygous PQBP1 gene mutation p.P609A (c.1825C>G).Semantic proximity Read ↗

Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the LiteratureSemantic proximity Read ↗

Generation of non-integrated induced pluripotent stem cells from a 59-year-old female with multiple endocrine neoplasia type 1 syndrome.Semantic proximity Read ↗

Generation of induced pluripotent stem cell line (ZZUi011-A) from urine sample of a normal humanSemantic proximity Read ↗

Establishment of a non-integrate iPS cell line CSUASOi002-A, from urine-derived cells of a female patient with macular corneal dystrophy carrying compound heterozygous CHST6 mutations.Semantic proximity Read ↗

Urine-derived induced pluripotent stem cells from Klinefelter Syndrome patients exhibit compromised capacity to differentiate into human primordial germ cell-like cellsSemantic proximity Read ↗

Generation of two non-integrated induced pluripotent stem cell lines from urine-derived cells of a Chinese patient carrying NF1 gene mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.