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Cellosaurus HPS1096 (CVCL_UP34)

[Text version]

Cell line name HPS1096
Synonyms BRCi013-A; CiRA-j-0043-A
Accession CVCL_UP34
Resource Identification Initiative To cite this cell line use: HPS1096 (RRID:CVCL_UP34)
Comments Population: Japanese.
Derived from sampling site: Skin.
Sequence variations Mutation; HGNC; 61; ABCD1; Simple; p.Leu670Phefs*63 (c.2010_2014delinsTAT); Zygosity=Hemizygous (PubMed=33901816).
Disease Adrenoleukodystrophy (NCIt: C61252)
X-linked cerebral adrenoleukodystrophy (ORDO: Orphanet_139396)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A3SX ! HPS1097
CVCL_A3SY ! HPS1098
CVCL_A3SZ ! HPS1099
CVCL_A3TA ! HPS1100
CVCL_A3TB ! HPS1101
Sex of cell Male
Age at sampling 10-19Y
Category Induced pluripotent stem cell
Publications

PubMed=33901816; DOI=10.1016/j.scr.2021.102337
Kuramochi Y., Awaya T., Matsuo-Takasaki M., Takami M., An Y., Li J.-Y., Hemmi Y., Wakabayashi T., Arai Y., Inoue J., Noguchi M., Nakamura Y., Asaka I., Akimoto K., Saito M.K., Hayashi Y.
Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations.
Stem Cell Res. 53:102337-102337(2021)

Cross-references
Cell line collections RCB; HPS1096
Cell line databases/resources hPSCreg; BRCi013-A
Encyclopedic resources Wikidata; Q94219507
Entry history
Entry creation25-Feb-2019
Last entry update20-May-2021
Version number5