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Cellosaurus (CVCL_RC14)

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Comments From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8636; PC; Simple; p.Ile61Thr (c.182T>C); Zygosity=Heterozygous (PubMed=36508859).
  • Mutation; HGNC; HGNC:8636; PC; Simple; p.Val861Met (c.2581G>A); Zygosity=Heterozygous (PubMed=36508859).
Disease Pyruvate carboxylase deficiency (NCIt: C85040)
Pyruvate carboxylase deficiency (ORDO: Orphanet_3008)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2M
Category Induced pluripotent stem cell
Publications


Chun-Lai Gao, Zhong-Tao Gai, Yi Liu;
Establishment of a transgene-free iPS cell line (SDQLCHi046-A) from a young patient bearing a HDAC8 mutation and suffering from Cornelia de Lange syndrome.
Stem Cell Res. 66:102984-102984(2023)

Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5