ID   MSCPi001-A
AC   CVCL_D6KD
SY   JD001
DR   hPSCreg; MSCPi001-A
DR   Wikidata; Q127382891
RX   PubMed=37948838;
CC   From: Medical School of Chinese PLA; Beijing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:61; ABCD1; Simple; p.Tyr559Cys (c.1676A>G); Zygosity=Hemizygous (PubMed=37948838).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61252; Adrenoleukodystrophy
DI   ORDO; Orphanet_139396; X-linked cerebral adrenoleukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37948838; DOI=10.1016/j.scr.2023.103243;
RA   Wang, Qiu-Hong
RA   Liu, Li-Ying
RA   Wang, Yang-Yang
RA   He, Wen
RA   Wang, Jie
RA   Wang, Jing
RA   Zou, Li-Ping
RT   "Generation and characterization of induced pluripotent stem cell
RT   lines derived from skin fibroblasts of patients with
RT   adrenoleukodystrophy.";
RL   Stem Cell Res. 73:103243-103243(2023).
//