Cellosaurus cell line HPS1096 (CVCL

Cellosaurus HPS1096 (CVCL_UP34)

Cross-references
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 site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 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 Yuji Kuramochi, Tomonari Awaya, Mami Matsuo-Takasaki, Miho Takami, Yuri An, Jing-Yue Li, Yasuko Hemmi, Tamami Wakabayashi, Yutaka Arai, Jun Inoue, Michiya Noguchi ...Show all 16 authors... , Yukio Nakamura, Isao Asaka, Kazunori Akimoto, Megumu K. Saito, Yohei Hayashi; Show fewer authors 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; HPS1096
Cell line databases/resources	hPSCreg; BRCi013-A
Encyclopedic resources	Wikidata; Q94219507
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	9