Výsledky vyhledávání - "Lilas Batool"

Akademický článek

Generation of two human induced pluripotent stem cell lines from a patient with Neurofibromatosis type 1 (NF1) and pathogenic NF1 gene variant c.1466 A>G BCRTi011-A as well as a first-degree healthy relative (BCRTi010-A)

Autor: Lilas Batool, Olha Storozhuk, Constanze Raab, Christien Madlen Beez, Mareike Selig, Anja Harder, Andreas Kurtz

Publikováno v: Stem Cell Research, Vol 71, Iss , Pp 103184- (2023)

We describe the generation of two human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) using a non-integrative episomal reprogramming strategy. The first cell line was derived from a NF1 patient wit

Externí odkaz: https://doaj.org/article/368bfea34a37415a85d2a9998d4fc6d2

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Akademický článek

Generation of human induced pluripotent stem cell line (BCRTi007-A) from urinary cells of a patient with autosomal dominant polycystic kidney disease

Autor: Lilas Batool, Constanze Raab, Christien Madlen Beez, Andreas Kurtz, Maik Gollasch, Bella Rossbach

Publikováno v: Stem Cell Research, Vol 69, Iss , Pp 103071- (2023)

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder of adults, characterized by uncontrolled cysts formation that causes a gradual impairment of kidney function. We generated a human induced pluripotent stem cell (hiPSC)

Externí odkaz: https://doaj.org/article/5ec4561cb9b3400c8e8c12e12a03d31d

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Akademický článek

Generation of human induced pluripotent stem cell line (BCRTi006-A) from a patient with focal segmental glomerulosclerosis disease

Autor: Lilas Batool, Constanze Raab, Christien Madlen Beez, Krithika Hariharan, Andreas Kurtz, Maik Gollasch, Bella Rossbach

Publikováno v: Stem Cell Research, Vol 69, Iss , Pp 103070- (2023)

Individuals with transient reception potential cation channel 6 (TRPC6) mutation have variable phenotypes, ranging from healthy carriers to focal segmental glomerulosclerosis (FSGS). Human induced pluripotent stem cell (hiPSC) line was generated from

Externí odkaz: https://doaj.org/article/7899c10de37e479d980388ae43476fd9

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XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect

Autor: Khushnooda Ramzan, Sibtain Afzal, Lilas Batool, Abdul Wali, Abrar Hussain, Ambreen Ijaz, Ajab Gul, Sulman Basit, Jamil Ahmad

Publikováno v: Congenital Anomalies. 59:18-21

Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity, and increased risk of skin carcinoma. We investigated seven consanguineous XP fami

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8f4a66b53b322a2b2a03c89033ee9102
https://doi.org/10.1111/cga.12281

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