Cellosaurus cell line HPS1090 (CVCL

Cross-references
Cell line name	HPS1090
Synonyms	BRCi012-A; CiRA-j-0042-A
Accession	CVCL_UP33
Resource Identification Initiative	To cite this cell line use: HPS1090 (RRID:CVCL_UP33)
Comments	Population: Japanese. 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.Arg401Trp (c.1201C>T); ClinVar=VCV000488393; 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_A3SS ! HPS1091 CVCL_A3ST ! HPS1092 CVCL_A3SU ! HPS1093 CVCL_A3SV ! HPS1094 CVCL_A3SW ! HPS1095
Sex of cell	Male
Age at sampling	<10Y
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)
Cell line collections (Providers)	RCB; HPS1090
Cell line databases/resources	hPSCreg; BRCi012-A
Encyclopedic resources	Wikidata; Q94219502
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	9