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Cellosaurus WTSIi253-A-2 (CVCL_C1XT)

[Text version]
Cell line name WTSIi253-A-2
Synonyms UMANi254-A-2
Accession CVCL_C1XT
Resource Identification Initiative To cite this cell line use: WTSIi253-A-2 (RRID:CVCL_C1XT)
Comments From: University of Manchester; Manchester; United Kingdom.
Population: Caucasian; British.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12442; TYR; Simple_edited; p.Ser192Tyr (c.575C>A); ClinVar=VCV000003778; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=35933957).
  • Mutation; HGNC; 12442; TYR; Simple; p.Arg402Gln (c.1205G>A); ClinVar=VCV000003779; Zygosity=Homozygous (PubMed=35933957).
Disease Oculocutaneous albinism type 1A (NCIt: C168731)
Oculocutaneous albinism type 1A (ORDO: Orphanet_79431)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_EE95 (HPSI0514i-letw_5)
Sex of cell Male
Age at sampling 70-74Y
Category Induced pluripotent stem cell
Publications

PubMed=35933957; DOI=10.1016/j.scr.2022.102880
Liu J.-S., Black G.C., Kimber S.J., Sergouniotis P.I.
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.
Stem Cell Res. 64:102880-102880(2022)

Cross-references
Cell line databases/resources hPSCreg; WTSIi253-A-2
Encyclopedic resources Wikidata; Q114313242
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4