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Cellosaurus MSCPi002-A (CVCL_D6KE)

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Cell line name MSCPi002-A
Synonyms JD002
Accession CVCL_D6KE
Resource Identification Initiative To cite this cell line use: MSCPi002-A (RRID:CVCL_D6KE)
Comments From: Medical School of Chinese PLA; Beijing; China.
Population: Chinese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:61; ABCD1; Simple; p.Glu302Asp (c.906 G>T); Zygosity=Hemizygous (PubMed=37948838).
Disease Adrenoleukodystrophy (NCIt: C61252)
X-linked cerebral adrenoleukodystrophy (ORDO: Orphanet_139396)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=37948838; DOI=10.1016/j.scr.2023.103243
Qiu-Hong Wang, Li-Ying Liu, Yang-Yang Wang, Wen He, Jie Wang, Jing Wang, Li-Ping Zou;
Generation and characterization of induced pluripotent stem cell lines derived from skin fibroblasts of patients with adrenoleukodystrophy.
Stem Cell Res. 73:103243-103243(2023)

Cross-references
Cell line databases/resources hPSCreg; MSCPi002-A
Encyclopedic resources Wikidata; Q127382893
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3