Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing

Jingshu Liu; Graeme Black; Susan Kimber; Panos Sergouniotis

doi:10.1016/j.scr.2022.102880

Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing

Jingshu Liu, Graeme Black, Susan Kimber, Panos Sergouniotis

Research output: Contribution to journal › Article › peer-review

Abstract

TYR encodes tyrosinase, the enzyme catalysing the first steps of melanin biosynthesis in melanocytes and retinal pigment epithelia (RPE). The TYR c.575C>A (p.Ser192Tyr) [rs1042602] and c.1205G>A (p.Arg402Gln) [rs1126809] variants are prevalent genetic changes that have been associated with multiple pigmentation traits. Notably, individuals who are homozygous for these two missense variants are predisposed to having albinism. Here we used CRISPR-Cas9 technology to generate an induced pluripotent stem cell (iPSC) line (WTSIi253-A-2) that carries both c.575C>A and c.1205G>A in homozygous state. The line expresses pluripotency markers and exhibits multi-lineage differentiation potential, providing a valuable in vitro model for investigating albinism pathogenesis.

Original language	English
Journal	Stem Cell Research
Early online date	30 Jul 2022
DOIs	https://doi.org/10.1016/j.scr.2022.102880
Publication status	Published - 1 Oct 2022

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title = "Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing",

abstract = "TYR encodes tyrosinase, the enzyme catalysing the first steps of melanin biosynthesis in melanocytes and retinal pigment epithelia (RPE). The TYR c.575C>A (p.Ser192Tyr) [rs1042602] and c.1205G>A (p.Arg402Gln) [rs1126809] variants are prevalent genetic changes that have been associated with multiple pigmentation traits. Notably, individuals who are homozygous for these two missense variants are predisposed to having albinism. Here we used CRISPR-Cas9 technology to generate an induced pluripotent stem cell (iPSC) line (WTSIi253-A-2) that carries both c.575C>A and c.1205G>A in homozygous state. The line expresses pluripotency markers and exhibits multi-lineage differentiation potential, providing a valuable in vitro model for investigating albinism pathogenesis.",

author = "Jingshu Liu and Graeme Black and Susan Kimber and Panos Sergouniotis",

year = "2022",

month = oct,

day = "1",

doi = "10.1016/j.scr.2022.102880",

language = "English",

journal = "Stem Cell Research",

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TY - JOUR

T1 - Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing

AU - Liu, Jingshu

AU - Black, Graeme

AU - Kimber, Susan

AU - Sergouniotis, Panos

PY - 2022/10/1

Y1 - 2022/10/1

N2 - TYR encodes tyrosinase, the enzyme catalysing the first steps of melanin biosynthesis in melanocytes and retinal pigment epithelia (RPE). The TYR c.575C>A (p.Ser192Tyr) [rs1042602] and c.1205G>A (p.Arg402Gln) [rs1126809] variants are prevalent genetic changes that have been associated with multiple pigmentation traits. Notably, individuals who are homozygous for these two missense variants are predisposed to having albinism. Here we used CRISPR-Cas9 technology to generate an induced pluripotent stem cell (iPSC) line (WTSIi253-A-2) that carries both c.575C>A and c.1205G>A in homozygous state. The line expresses pluripotency markers and exhibits multi-lineage differentiation potential, providing a valuable in vitro model for investigating albinism pathogenesis.

AB - TYR encodes tyrosinase, the enzyme catalysing the first steps of melanin biosynthesis in melanocytes and retinal pigment epithelia (RPE). The TYR c.575C>A (p.Ser192Tyr) [rs1042602] and c.1205G>A (p.Arg402Gln) [rs1126809] variants are prevalent genetic changes that have been associated with multiple pigmentation traits. Notably, individuals who are homozygous for these two missense variants are predisposed to having albinism. Here we used CRISPR-Cas9 technology to generate an induced pluripotent stem cell (iPSC) line (WTSIi253-A-2) that carries both c.575C>A and c.1205G>A in homozygous state. The line expresses pluripotency markers and exhibits multi-lineage differentiation potential, providing a valuable in vitro model for investigating albinism pathogenesis.

U2 - 10.1016/j.scr.2022.102880

DO - 10.1016/j.scr.2022.102880

M3 - Article

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

ER -

Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing

Abstract

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